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Edition of 09 November 2020

New Syndromes

De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation, a neurodevelopmental syndrome closed to CACH syndrome

A new study published in the American Journal of Human Genetics identified the identification of nine unrelated individuals with heterozygous de novo missense variants in EIF2AK1 or EIF2AK2. Features seen in these nine individuals include white matter alterations, developmental delay, impaired language, cognitive impairment, ataxia, dysarthria in probands with verbal ability, hypotonia, hypertonia, and involuntary movements. Individuals with EIF2AK2 variants also exhibit neurological regression in the setting of febrile illness or infection. This study showed that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic and pathogenic mechanisms with CACH/VWM.

Consult the pubmed abstract

To read more about “CACH syndrome”

Am J Hum Genet . 2020 Apr 2;106(4):570-583

Bi-allelic loss-of-function variants in NUP188 cause a recognizable syndrome characterized by neurologic, ocular, and cardiac abnormalities

A new study published in the American Journal of Human Genetics identified six affected individuals with bi-allelic truncating variants in NUP188 from four unrelated families. Key clinical features include congenital cataracts, hypotonia, prenatal-onset ventriculomegaly, white-matter abnormalities, hypoplastic corpus callosum, congenital heart defects, and central hypoventilation. Characteristic dysmorphic features include small palpebral fissures, a wide nasal bridge and nose, micrognathia, and digital anomalies. All affected individuals died as a result of respiratory failure, and five of them died within the first year of life. This study showed that bi-allelic loss-of-function NUP188 variants caused a recessive syndrome characterized by a distinct neurologic, ophthalmologic, and facial phenotype.

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Am J Hum Genet . 2020 May 7;106(5):623-631

A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability

A news study published in the European Journal of Medical Genetics identified two siblings with a homozygous splice-site mutation in the SPTBN4 gene. The study showed that muscular hypotonia, myopathic facies with ptosis and axonal neuropathy can be the core clinical features in the SPTBN4 disorder and suggested that SPTBN4 mutation analysis should be considered in infants with marked axonal neuropathy.

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Eur J Med Genet . 2020 Apr;63(4):103826

Bi-allelic ADARB1 variants caused microcephaly, intellectual disability, and seizures

A recent study published in the American Journal of Human Genetics identified bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. In one individual, a homozygous variant in one of the double-stranded RNA-binding domains was identified. In the others, variants were situated in or around the deaminase domain. The sutdy showed the importance of RNA editing in brain development and introduced ADARB1 as a genetic etiology in individuals with intellectual disability, microcephaly, and epilepsy.

Consult the pubmed abstract

Am J Hum Genet . 2020 Apr 2;106(4):467-483

New Genes

A neurodevelopmental disorder with features of autism spectrum disorder is caused by de novo and inherited variants in ZNF292

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To read more about “Non-specific syndromic intellectual disability”

Genet Med. 2020 Mar; 22(3): 538–546

Autism spectrum disorder, intellectual disability and seizures is caused by Jumonji domain containing 1C (JMJD1C) sequence variants

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Eur J Med Genet . 2020 Apr;63(4):103850

A syndrome variably associated with spasticity, ataxia, and intellectual disability is caused by de novo variants in CAMTA1

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To read more about “Non-specific syndromic intellectual disability”

Eur J Hum Genet . 2020 Jun;28(6):763-769.

A syndrome involving intellectual disability and epileptic encephalopathy is caused by de novo variants in CDK19

Consult the pubmed abstract

To read more about “Non-specific syndromic intellectual disability”

Am J Hum Genet . 2020 May 7;106(5):717-725

Congenital heart defects is caused by haploinsufficiency of the basic helix-loop-helix transcription factor HAND2

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To read more about “Complete atrioventricular septal defect-tetralogy of Fallot”

Am J Med Genet A . 2020 May;182(5):1263-1267

Martsolf syndrome is caused by a novel mutation in the TBC1D20 gene

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To read more about “Cataract-intellectual disability-hypogonadism syndrome”

Am J Med Genet A . 2020 May;182(5):1263-1267.

Intellectual disability is caused by a novel nonsense INPP4A mutation

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To read more about “Autosomal recessive non-syndromic intellectual disability”

Eur J Med Genet . 2020 Apr;63(4):103846

Autosomal dominant nonsyndromic deafness is caused by a novel mutation missense in the SCD5 gene

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To read more about “Non-syndromic genetic deafness”

Eur J Med Genet . 2020 May;63(5):103855.

Intellectual disability and developmental delay is caused by variants in CAPZA2, a member of an F-actin capping complex

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To read more about “Autosomal dominant non-syndromic intellectual disability”

Hum Mol Genet . 2020 Jun 3;29(9):1537-1546

Treacher Collins syndrome type 4 is caused by novel pathogenic variants in POLR1B

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To read more about “Treacher-Collins syndrome”

Genet Med. 2020; 22(3): 547–556.

Frontotemporal dementia and amyotrophic lateral sclerosis are caused by a novel missense variant in CYLD

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To read more about “Frontotemporal dementia with motor neuron disease”

Brain . 2020 Mar 1;143(3):783-799

A neurodevelopmental phenotype is caused by de novo heterozygous missense and loss-of-function variants in CDC42BPB

Consult the pubmed abstract

To read more about “Non-specific syndromic intellectual disability”

Am J Med Genet A . 2020 May;182(5):962-973

Infantile spinal muscular atrophy is caused by de novo variants in GARS1

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To read more about “Proximal spinal muscular atrophy”

Am J Med Genet A . 2020 May;182(5):1167-1176

Impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature is caused by biallelic variants in PSMB1 encoding the proteasome subunit β6

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To read more about “Non-specific syndromic intellectual disability”

Hum Mol Genet . 2020 May 8;29(7):1132-1143.

Familial dilated cardiomyopathy is caused by mutations in KLF5

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To read more about “Familial dilated cardiomyopathy”

Eur J Med Genet . 2020 Apr;63(4):103827

A second case of Okamoto syndrome caused by HNRNPK mutation

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To read more about “Okamoto syndrome”

Am J Med Genet A . 2020 Jun;182(6):1537-1539

Amelogenesis imperfecta is caused by a missense variant in specificity protein 6 (SP6)

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To read more about “Amelogenesis imperfecta”

Hum Mol Genet. 2020 Jun 3; 29(9): 1417–1425

Early-onset recessive primary familial brain calcification is caused by bi-allelic JAM2 variants

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To read more about “Bilateral striopallidodentate calcinosis”

Am J Hum Genet. 2020 Mar 5; 106(3): 412–421.

Progressive myoclonic epilepsy is caused by de novo truncating variants in the last exon of SEMA6B

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To read more about “Progressive myoclonic epilepsy”

Am J Hum Genet . 2020 Apr 2;106(4):549-558

Biomarkers

Hemophagocytic syndrome : a study showed that the serum ferritin level can be used as an independent prognostic marker in adult patients

Consult the pubmed abstract

To read more about “Hemophagocytic syndrome”

Orphanet J Rare Dis. 2020; 15: 71

Clinical Research

Immunodeficiency by defective expression of MHC class II : a study showed that changing transplant strategy has significantly improved outcomes in children

Consult the pubmed abstract

To read more about “Immunodeficiency by defective expression of MHC class II”

Blood . 2020 Mar 19;135(12):954-973

Erdheim-Chester disease : a study of long-term follow-up of mTOR inhibition

Consult the pubmed abstract

To read more about “Erdheim-Chester disease”

Blood . 2020 May 28;135(22):1994-1997

Juvenile idiopathic arthritis : a cohort study of the long-term course, remission rate, and disease burden 18 years after disease onset

Consult the pubmed abstract

To read more about “Juvenile idiopathic arthritis”

Arthritis Care Res (Hoboken) . 2020 Apr;72(4):507-516

Congenital generalized lipodystrophy : a study of the long-term follow-up findings including gastrointestinal and cardiac manifestations of the patients with type 1 and type 4

Consult the pubmed abstract

To read more about “Berardinelli-Seip congenital lipodystrophy”

Eur J Med Genet . 2020 Apr;63(4):103819

Lymphangioleiomyomatosis : a controlled study showed that yoga is a feasible and safe intervention for pulmonary rehabilitation and potentially improves exercise capacity

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To read more about “Lymphangioleiomyomatosis”

Eur J Med Genet . 2020 Apr;63(4):103819

Glycogen storage disease due to acid maltase deficiency, late-onset : a crossover randomized study showed that exercise training, if combined with high-protein diet, could result in an improvement in patients on long term enzyme replacement therapy

Consult the pubmed abstract

To read more about “Glycogen storage disease due to acid maltase deficiency, late-onset”

Orphanet J Rare Dis . 2020 Jun 6;15(1):143

Prader-Willi syndrome : a study showed that the modified Atkins Diet can be a feasible low carbohydrate option for children for weight management

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To read more about “Prader-Willi syndrome”

Orphanet J Rare Dis. 2020; 15: 135

Osteogenesis imperfecta : a muticenter study of the evaluation of hearing loss in North America

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To read more about “Osteogenesis imperfecta”

Am J Med Genet A . 2020 Apr;182(4):697-704

Juvenile idiopathic arthritis : a study comparing proxy-completed childhood health assessment questionnaire, adolescent and adult assessments of functional ability in adolescents

Consult the pubmed abstract

To read more about “Juvenile idiopathic arthritis”

Arthritis Care Res (Hoboken) . 2020 Apr;72(4):517-524

Proximal spinal muscular atrophy type 1 : a real-life observational study showed that nusinersen improves motor development and motor function in children, particularly those with more severe forms of the disorder, but patients remain severely disabled

Consult the pubmed abstract

To read more about “Proximal spinal muscular atrophy type 1”

Orphanet J Rare Dis. 2020; 15: 148.

Hyperinsulinaemic hypoglycaemia : a three-year cohort of patients followed up for 5 years showed that, in spite of feeding difficulties and carbohydrate loading in early life, auxology parameters are normal in follow up

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To read more about “Hyperinsulinemic hypoglycaemia”

Orphanet J Rare Dis. 2020; 15: 162

Mucopolysaccharidoses : a study of critical clinical situations in adult patients

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To read more about “Mucopolysaccharidosis”

Orphanet J Rare Dis. 2020; 15: 114.

Phenylketonuria : a retrospective study of the perceived expectations, benefits and challenges of adult patients transitioning from a pediatric to adult care setting

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To read more about “Phenylketonuria”

Eur J Med Genet . 2020 Apr;63(4):103818.

Tropical spastic paraparesis : a study of the creation and validation of a bladder dysfunction symptom score for HTLV-1-associated myelopathy/tropical spastic paraparesis

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To read more about “Tropical spastic paraparesis”

Orphanet J Rare Dis . 2020 Jul 3;15(1):175

Giant cell arteritis : a meta-analysis showed that giant cell arteritis relapses occured in half of patients without improvement across decades in patients treated with glucocorticoids alone

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To read more about “Giant cell arteritis”

Arthritis Care Res (Hoboken) . 2020 Jun;72(6):838-849

Castleman disease : a French paediatric cohort study showed that paediatric Castleman disease still seems underdiagnosed, with a significant diagnosis delay, especially for multicentric Castleman disease

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To read more about “Castleman disease”

Orphanet J Rare Dis . 2020 Apr 17;15(1):95

Eosinophilic esophagitis : a retrospective cohort showed that allergy testing is relevant in the majority of children and atopy seems to be associated with better response to swallowed topical steroids

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To read more about “Eosinophilic esophagitis”

Arch Pediatr . 2020 Apr;27(3):122-127

B-cell chronic lymphocytic leukemia : a phase 1b/2 study showed the efficacy, durability of response, and long-term safety of acalabrutinib in patients with relapsed/refractory chronic lymphocytic leukemia

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To read more about “B-cell chronic lymphocytic leukemia”

Blood . 2020 Apr 9;135(15):1204-1213

B-cell chronic lymphocytic leukemia : a systematic review and meta-analysis of ibrutinib as initial therapy

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To read more about “B-cell chronic lymphocytic leukemia”

Eur J Haematol . 2020 May;104(5):512-515

B-cell chronic lymphocytic leukemia : a study showed that the international prognostic score for asymptomatic early-stage chronic lymphocytic leukemia is a simple and robust prognostic model

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To read more about “B-cell chronic lymphocytic leukemia”

Blood . 2020 May 21;135(21):1859-1869

B-cell chronic lymphocytic leukemia : a cancer registry study showed that secondary hematological malignancies and especially myeloid malignancies were rare in chemoimmunotherapy era

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To read more about “B-cell chronic lymphocytic leukemia”

Eur J Haematol . 2020 Jun;104(6):546-553.

Diffuse large B-cell lymphoma : a study of the evaluation of the MD Anderson tumor score in the rituximab era

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To read more about “Diffuse large B-cell lymphoma”

Eur J Haematol . 2020 May;104(5):400-408

Diffuse large B-cell lymphoma : a phase 1 dose-expansion study showed that the overall response rate of avadomide monotherapy in patients with de novo relapsed/refractory diffuse large B-cell lymphoma was 29%, including 11% of complete response

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To read more about “Diffuse large B-cell lymphoma”

Blood . 2020 Mar 26;135(13):996-1007

Multiple myeloma : a meta-analysis showed that B cell maturation antigen-specific chimeric antigen receptor T cells resulted in a pooled overall response of 82% and complete response of 36% for relapsed or refractory multiple myeloma

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To read more about “Multiple myeloma”

Eur J Haematol . 2020 Apr;104(4):318-327

Multiple myeloma : a phase 2 study showed that the median progression free survival was 8.5 months in patient with relapsed/refractory multiple myeloma treated with ibrutinib in combination with bortezomib and dexamethasone

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To read more about “Multiple myeloma”

Eur J Haematol . 2020 Apr;104(4):318-327.

Precursor B-cell acute lymphoblastic leukemia : a single-arm phase 2 showed that blinatumomab improves relapse-free survival, in adults with minimal residual disease-positive B-cell precursor (BCP)-acute lymphoblastic leukaemia versus standard-of-care

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To read more about “Precursor B-cell acute lymphoblastic leukemia”

Eur J Haematol . 2020 Apr;104(4):299-309

Classic Hodgkin lymphoma : a phase 3 study showed that brentuximab vedotin with doxorubicin, vinblastine and dacarbazine in patient with stage III/IV classical Hodgkin lymphoma provide a durable efficacy at 3 years that is independant of PET2 status

Consult the pubmed abstract

To read more about “Classic Hodgkin lymphoma”

Blood . 2020 Mar 5;135(10):735-742

B-cell non-Hodgkin lymphoma : a phase 2 study showed that high-dose cyclophosphamide for hard-to-treat patients with relapsed or refractory B-cell non-Hodgkin's lymphoma demonstrated a favorable safety and efficacy profile

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To read more about “B-cell non-Hodgkin lymphoma”

Eur J Haematol . 2020 Apr;104(4):281-290

Mucopolysaccharidosis type 4A : a study showed that patients treated with elosulfase alfa have long-term improvement or stability in endurance, regardless of pathogenic variant

Consult the pubmed abstract

To read more about “Mucopolysaccharidosis type 4A”

Orphanet J Rare Dis . 2020 Sep 29;15(1):270.

Progressive familial intrahepatic cholestasis type 2 : a study showed that the genotype of patients with severe bile salt export pump deficiency is associated with clinical outcomes and the success of therapeutic interventions

Consult the pubmed abstract

To read more about “Progressive familial intrahepatic cholestasis type 2”

J Hepatol . 2020 Jul;73(1):84-93

Diagnostic Approaches

Krabbe disease : a study showed the critical role of psychosine in screening, diagnosis, and monitoring

Consult the pubmed abstract

To read more about “Krabbe disease”

Genet Med . 2020 Jun;22(6):1108-1118

Muscular dystrophies : a study showed that exome sequencing is a powerful approach for the diagnosis of muscular dystrophies in consanguineous families

Consult the pubmed abstract

Eur J Med Genet . 2020 Apr;63(4):103845

Syndromic inherited retinal disorder : a study of diagnostic yield of panel-based genetic testing

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To read more about “Syndromic inherited retinal disorder”

Eur J Hum Genet. 2020 May; 28(5): 576–586

Inherited eye disorders : a study showed that genetic testing helped identify an etiological diagnosis in the majority of preschool children

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Genet Med . 2020 Apr;22(4):745-751

Rare Mendelian diseases : a study showed that transcriptome sequencing analysis increased the molecular diagnostic rate above that possible with genome sequencing analysis alone

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Genet Med . 2020 Mar;22(3):490-499

Mendelian neurodevelopmental disorders : a study of the evaluation of DNA methylation episignatures for diagnosis and phenotype correlations

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Am J Hum Genet . 2020 Mar 5;106(3):356-370

Undiagnosed diseases : a review of the limitations of exome sequencing in detecting rare and undiagnosed diseases

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Am J Med Genet A . 2020 Jun;182(6):1400-1406

Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity

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J Mol Diagn . 2020 Jun 30;S1525-1578(20)30371-8

A scoping review emphasised the value of multi-omic analysis for rare disease research

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Orphanet J Rare Dis. 2020; 15: 107

A study of the evaluation of systematic reanalysis of clinical genomic data in rare disease

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Mol Genet Genomic Med . 2020 Sep 23;e1508

Therapeutic Approaches

Pelizaeus-Merzbacher disease : a study showed that neural stem cells restored myelin in a demyelinating model

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To read more about “Pelizaeus-Merzbacher disease”

Brain . 2020 May 1;143(5):1383-1399

Machado-Joseph disease : a study showed that calpain-1 ablation partially rescued disease-associated hallmarks in models

Consult the pubmed abstract

To read more about “Spinocerebellar ataxia type 3”

Hum Mol Genet . 2020 Apr 15;29(6):892-906.

Oculodentodigital dysplasia : a study of the effects of reduced connexin43 function on skull development in the Cx43 I130T/+ mutant mouse models

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To read more about “Oculodentodigital dysplasia”

Bone . 2020 Jul;136:115365

Microcephaly-lymphedema-chorioretinopathy syndrome : a study of a mouse model for kinesin family member 11 (Kif11)-associated familial exudative vitreoretinopathy

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To read more about “Microcephaly-lymphedema-chorioretinopathy syndrome”

Hum Mol Genet . 2020 May 8;29(7):1121-1131

CDKL5-related epileptic encephalopathy : a study showed that gene replacement ameliorated deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder

Consult the pubmed abstract

To read more about “CDKL5-related epileptic encephalopathy”

Brain . 2020 Mar 1;143(3):811-832.

Alport syndrome : a study of COL4A3 and COL4A5 gene editing in podocyte-lineage cells

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To read more about “Alport syndrome”

Eur J Hum Genet . 2020 Apr;28(4):480-490

Ataxia-telangiectasia : a study showed that correction of ATM mutations in iPS cells from two patients restored DNA damage and oxidative stress responses

Consult the pubmed abstract

To read more about “Ataxia-telangiectasia”

Hum Mol Genet . 2020 Apr 15;29(6):990-1001

Leukoencephalopathy with calcifications and cysts : an analysis of U8 snoRNA variants in Zebrafish reveals how bi-allelic variants cause leukoencephalopathy with calcifications and cysts

Consult the pubmed abstract

To read more about “Leukoencephalopathy with calcifications and cysts”

Am J Hum Genet . 2020 May 7;106(5):694-706

Fanconi anemia : a study of the potential capacity to screen large compound libraries in the context of Fanconi anemia therapeutics in an optimized and cost-effective platform

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To read more about “Fanconi anemia”

Orphanet J Rare Dis. 2020; 15: 170

Patient Management and Therapy

B-cell chronic lymphocytic leukemia : How I manage CLL with venetoclax-based treatments

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To read more about “B-cell chronic lymphocytic leukemia”

Blood . 2020 Apr 23;135(17):1421-1427

Amyotrophic lateral sclerosis : a study of the relationship between ageing and amyotrophic lateral sclerosis from a cellular perspective

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To read more about “Amyotrophic lateral sclerosis”

Brain . 2020 Apr 1;143(4):1057-1072

Erdheim-Chester disease : a review

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To read more about “Erdheim-Chester disease”

Blood . 2020 Apr 16;135(16):1311-1318

Langerhans cell histiocytosis : a review

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To read more about “Langerhans cell histiocytosis”

Blood . 2020 Apr 16;135(16):1319-1331

Lymphomatoid granulomatosis : a review of pathobiology and treatment of lymphomatoid granulomatosis, a rare EBV-driven disorder

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To read more about “Lymphomatoid granulomatosis”

Blood . 2020 Apr 16;135(16):1344-1352

Castleman disease : a review

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To read more about “Castleman disease”

Blood . 2020 Apr 16;135(16):1353-1364

Hemophagocytic syndrome : a review of pediatric hemophagocytic syndrome

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To read more about “Hemophagocytic syndrome”

Blood . 2020 Apr 16;135(16):1332-1343.

ANCA-associated vasculitis : a review of advances in therapeutic treatment options

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To read more about “Anti-neutrophil cytoplasmic antibody-associated vasculitis”

Expert Opin Orphan Drugs. 2020 May 6;8(4): 127-136

Eosinophilic Esophagitis : a review of approaches and challenges to management of pediatric and adult patients

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To read more about “Eosinophilic esophagitis”

Gastroenterology . 2020 Mar;158(4):840-851

Down syndrome : a review of a developing perspective of skeletal dynamics

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To read more about “Down syndrome”

Bone . 2020 Apr;133:115215

Hypohidrotic ectodermal dysplasia : a systematic review of the characterization of hypodontia, hypohidrosis, and hypotrichosis associated with X-linked hypohidrotic ectodermal dysplasia

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To read more about “Hypohidrotic ectodermal dysplasia”

Am J Med Genet A . 2020 Apr;182(4):831-841

Systemic lupus erythematosus : a review of the clinical characteristics of incomplete systemic lupus erythematosus after introduction of the Systemic Lupus International Collaborating Clinics (SLICC) criteria

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To read more about “Systemic lupus erythematosus”

Arthritis Care Res (Hoboken) . 2020 May;72(5):607-614

Pancreatic ductal adenocarcinoma : a review of the carcinogenesis

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Gastroenterology . 2020 Jun;158(8):2072-2081.

Recommendations

Hepatocellular carcinoma : a review of the AGA clinical practice update on screening and surveillance for hepatocellular carcinoma in patients with nonalcoholic fatty liver disease

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To read more about “Hepatocellular carcinoma”

Gastroenterology . 2020 May;158(6):1822-1830

Digestive Neuroendocrine Neoplasms : French Intergroup clinical practice guidelines for diagnosis, treatment and follow-up (SNFGE, GTE, RENATEN, TENPATH, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO, SFR)

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To read more about “Neuroendocrine neoplasm”

Dig Liver Dis . 2020 May;52(5):473-492

Hereditary haemorrhagic telangiectasia : European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children

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To read more about “Hereditary hemorrhagic telangiectasia”

Orphanet J Rare Dis . 2020 Jun 29;15(1):165

Skeletal dysplasia : Best practice guidelines for management of spinal disorders

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Orphanet J Rare Dis. 2020; 15: 161

Fabry disease : practical recommendations for the use of migalastat in clinical practice on the basis of a structured survey among Italian experts

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To read more about “Fabry disease”

Orphanet J Rare Dis. 2020; 15: 86

Behçet disease : Evidence-based diagnosis and clinical practice guidelines for intestinal Behçet’s disease 2020 edited by Intractable Diseases, the Health and Labour Sciences Research Grants

Consult the pubmed abstract

To read more about “Behçet disease”

J Gastroenterol. 2020; 55(7): 679–700

Epidemiology

Cystic fibrosis : a study of the genetic data from the first 6.5 years of the National Newborn Screening for cystic fibrosis in the Republic of Ireland

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To read more about “Cystic fibrosis”

Eur J Hum Genet . 2020 Jun 1

Systemic lupus erythematosus : a study of racial and ethnic differences in the prevalence and time to onset of manifestations based on the California Lupus Surveillance Project (CLSP)

Consult the pubmed abstract

Arthritis Care Res (Hoboken) . 2020 May;72(5):622-629

Summary of the edition of 09 November 2020

Editorial
Political news
Scientific news
And also...