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Edition of 28 February 2019

New Syndromes

SOX4 mutations cause a neurodevelopmental disease with intellectual disability and mild dysmorphism

A recent article published in The American Journal of Human Genetics identified de novo SOX4 heterozygous missense variants in four children who share developmental delay, intellectual disability, and mild facial and digital morphological abnormalities. SOX4 is a SRY-related transcription factor involved in developmental pathways. The authors are hopeful that these variants may explain the origins of this characteristic human developmental disorder associated with mild dysmorphism.

Am J Hum Genet. 2019 Feb 7;104(2):246-259

Consult the PubMed abstract

ZMIZ1 variants cause a syndromic neurodevelopmental disorder with growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations

In The American Journal of Human Genetics, researchers have identified 19 individuals with mutations in ZMIZ1 associated with growth failure, feeding difficulties, microcephaly, facial dysmorphism, and various other congenital malformations. ZMIZ1 is a coactivator of several transcription factors. In vitro and in vivo experiments supported the idea that the gene is involved in this neurodevelopmental syndrome.

Am J Hum Genet. 2019 Feb 7;104(2):319-330

Consult the PubMed abstract

Mutation in PRUNE1 is responsible for childhood neurodegenerative disease in Manitoba Cree families

An article published in the American Journal of Medical Genetics identified nine individuals of Cree descent, homozygous for a PRUNE1 mutation, which encodes an exopolyphosphatase member of the aspartic acid-histidine-histidine protein superfamily of phosphoesterases highly expressed during early human fetal brain development. The authors found that the individuals followed a course of combined neuromuscular and neurodegenerative diseases, starting in early infancy with hypotonia, contractures, tongue fasciculations, and feeding difficulties, followed by onset of seizures, spasticity, and respiratory insufficiency.

Am J Med Genet A. 2019 Feb;179(2):206-218

Consult the PubMed abstract

Mutations in DHPS are involved in a neurodevelopmental disorder with global developmental delay and seizures

The American Journal of Human Genetics recently published a study identifying five individuals from four unrelated families presenting similar neurodevelopmental features that include global developmental delay and seizures. Two of four affected females had short stature. The phenotype is likely due to variants in DHPS identified via exome sequencing, which encodes the deoxyhypusine synthase.

Am J Hum Genet. 2019 Feb 7;104(2):287-298

Consult the PubMed abstract

New Genes

Variants in MAPK8IP3 cause intellectual disability with mild to severe intellectual disability

Consult the PubMed abstract

Am J Hum Genet. 2019 Feb 7;104(2):203-212

MITF mutation leads to familial Waardenburg syndrome type 4

Consult the PubMed abstract

To read more about “Waardenburg syndrome type 4”

Am J Med Genet A. 2019 Feb;179(2):243-248

Mutation in ERF causes Chitayat syndrome

Consult the PubMed abstract

Am J Med Genet A. 2019 Jan;179(1):118-122

Mutations in ARMC2 lead to severe astheno-teratozoospermia

Consult the PubMed abstract

To read more about “non-syndromic male infertility due to sperm motility disorder”

Am J Hum Genet. 2019 Feb 7;104(2):331-340

Mutations in TBC1D8B lead to X-linked nephrotic syndrome

Consult the PubMed abstract

To read more about “familial idiopathic steroid-resistant nephrotic syndrome”

Am J Hum Genet. 2019 Feb 7;104(2):348-355

A mutation in MYORG linked to autosomal-recessive primary familial brain calcification

Consult the PubMed abstract

To read more about “primary familial brain calcification”

Neuron. 2018 Jun 27;98(6):1116-1123

Mutation in GAS2L2 linked to primary ciliary dyskinesia

Consult the PubMed abstract

To read more about “primary ciliary dyskinesia”

Am J Hum Genet. 2019 Feb 7;104(2):229-245

Mosaic deletions in TCF4 gene associated with Pitt-Hopkins syndrome

Consult the abstract

To read more about “Pitt-Hopkins syndrome”

Am J Med Genet A. 2019 Jan;179(1):134-138

Clinical Research

Paroxysmal nocturnal hemoglobinuria: Two phase 3, open-label studies showed that ravulizumab achieved noninferiority compared with eculizumab, with similar safety profiles. Patients may be safely switched from eculizumab to ravulizumab

Consult the PubMed abstract
Consult the PubMed abstract

To read more about “paroxysmal nocturnal hemoglobinuria”

Blood. 2019 Feb 7;133(6):530-539 & Blood. 2019 Feb 7;133(6):540-549

Sodium channelopathy-related small fiber neuropathy: A randomised controlled trial showed that lacosamide was well tolerated and safe

Consult the PubMed abstract

To read more about “sodium channelopathy-related small fiber neuropathy”

Brain. 2019 Feb 1;142(2):263-275

Transfusion-dependent thalassemia or sickle cell anemia: A multicentre, prospective cohort study showed that deferasirox had long-term efficacy in children although higher doses may be required to achieve iron balance

Consult the PubMed abstract

To read more about “sickle cell-beta-thalassemia disease syndrome”

Eur J Haematol. 2019 Feb;102(2):123-130

Bing-Neel syndrome: A multicentre study showed that ibrutinib therapy is effective

Consult the PubMed abstract

To read more about “Waldenström macroglobulinemia”

Blood. 2019 Jan 24;133(4):299-305

Hypophosphatasia: A multinational, randomised, open-label study showed that asfotase alfa therapy showed improvements in gross motor function, muscle strength, and patient-reported functional disability over 5 years of treatment, and was well tolerated

Consult the PubMed abstract

To read more about “hypophosphatasia”

Bone. 2018 Dec 18;121:149-162

Autoimmune diseases: A prospective, open-label, phase 1-2a study showed that interleukin-2 expanded regulatory T cells and was safe across 11 different autoimmune diseases

Consult the PubMed abstract

To read more about “systemic lupus erythematosus”
To read more about “Behçet disease”
To read more about “granulomatosis with polyangiitis”
To read more about “Takayasu arteritis”
To read more about “autoimmune hepatitis”
To read more about “sclerosing cholangitis”

Ann Rheum Dis. 2019 Feb;78(2):209-217

Gastroschisis: A study showed a high risk of spontaneous preterm birth

Consult the PubMed abstract

To read more about “gastroschisis”

Am J Med Genet A. 2019 Jan;179(1):37-42

Kabuki syndrome: A study showed a significant decrease in the presence of joint hypermobility after two years of growth hormone treatment

Consult the PubMed abstract

To read more about “Kabuki syndrome”

Am J Med Genet A. 2019 Feb;179(2):219-223

Takayasu arteritis: A retrospective cohort study on presentation and disease-course of childhood- versus adult-onset

Consult the PubMed abstract

To read more about “Takayasu arteritis”

Arthritis Rheumatol. 2019 Feb;71(2):315-323

X-linked hypophosphatamia: A large chinese cohort study for clinical and genetic analysis

Consult the PubMed abstract

To read more about “X-linked hypophosphatemia”

Bone. 2019 Jan 23;121:212-220

Prader-Willi syndrome: Response questionnaires showed deceased individuals had higher rates of clinical features, such as weight/heart problems, sleep apnea, respiratory complications, diabetes, osteoporosis, high pain tolerance, and severe skin picking

Consult the PubMed abstract

To read more about “Prader-Willi syndrome”

Am J Med Genet A. 2019 Feb;179(2):196-205

Osteogenesis imperfecta: Addition of four new patients with aortic dissection and/or aneurysm surgery which opens up the discussion on the need for cardiovascular screening

Consult the PubMed abstract

To read more about “osteogenesis imperfecta”

Bone. 2019 Jan 23;121:191-195

Down syndrome: A retrospective chart review showed that infants with certain comorbidities had significant risk for significant dysphagia and indicated that all young infants should be screened clinically for feeding and swallowing concerns

Consult the PubMed abstract

To read more about “Down syndrome”

Am J Med Genet A. 2019 Feb;179(2):177-182

Juvenile idiopathic arthritis: A study indicated the need for structured guidance in understanding and coping with the consequences of low physical activity

Consult the PubMed abstract

To read more about “juvenile idiopathic arthritis”

Arthritis Care Res (Hoboken). 2019 Feb;71(2):271-280

Cartilage-hair hypoplasia: A survey of 26 females indicated that many patients expressed concerns regarding the safety of pregnancy and lack of prepregnancy counseling

Consult the PubMed abstract

To read more about “cartilage-hair hypoplasia”

Am J Med Genet A. 2019 Feb;179(2):190-195

Systemic lupus erythematosus: A study identified long-term clinical outcomes in a cohort of adults

Consult the PubMed abstract

To read more about “systemic lupus erythematosus”

Arthritis Rheumatol. 2019 Feb;71(2):290-301

Systemic lupus erythematosus: An international inception cohort study showed that psychosis was an infrequent manifestation

Consult the PubMed abstract

To read more about “systemic lupus erythematosus”

Arthritis Rheumatol. 2019 Feb;71(2):281-289

Multiple myeloma: A subgroup analysis of ENDEAVOUR showed that carfilzomib and dexamethasone demonstrated progression-free survival and overall survival over bortezomib and dexamethasone

Consult the PubMed abstract

To read more about “multiple myeloma”

Blood. 2019 Jan 10;133(2):147-155

Multiple myeloma: A Danish retrospective nationwide cohort study suggested that tumour burden and renal impairment were risk factors for pneumonia and sepsis in the early phase of the disease

Consult the PubMed abstract

To read more about “multiple myeloma”

Eur J Haematol. 2019 Feb;102(2):182-190

Myeloproliferative neoplasms: A prospective cohort study found a lower prevalence of pulmonary hypertension than previously reported

Consult the PubMed abstract

To read more about “myeloproliferative neoplasm”

Eur J Haematol. 2019 Mar;102(3):227-234

Primary myelofibrosis: A cross-sectional study indicated that functional iron deficiency was common and contributed to anemia development and impaired quality of life

Consult the PubMed abstract

To read more about “primary myelofibrosis”

Eur J Haematol. 2019 Mar;102(3):235-240

Hodgkin lymphoma: A study suggested that allogeneic hematopoietic stem cell transplantation after checkpoint inhibitors was feasible and not associated with higher mortality, however additional prospective studies are needed

Consult the PubMed abstract

To read more about “Hodgkin lymphoma”

Eur J Haematol. 2019 Feb;102(2):150-156

Therapeutic Approaches

Duchenne muscular dystrophy: Intermittent parathyroid hormone treatment improves bone and muscle in glucocorticoid treated Mdx mice

Consult the PubMed abstract

To read more about “Duchenne muscular dystrophy”

Bone. 2019 Feb 1;121:232-242

Sjögren syndrome: Phosphatidylinositol 3-kinase delta pathway is a novel therapeutic target in a mouse model

Consult the PubMed abstract

To read more about “primary Sjögren syndrome”

Ann Rheum Dis. 2019 Feb;78(2):249-260

Erythropoietic protoporphyria: Erythroid-progenitor-targeted gene therapy using bifunctional TRF1 ligand-peptides in primary cultures of differentiating erythroid progenitors

Consult the PubMed abstract

To read more about “autosomal erythropoietic protoporphyria”

Am J Hum Genet. 2019 Feb 7;104(2):341-347

Hemophilia: Reviews on new therapies

Consult the PubMed abstract
Consult the PubMed abstract

To read more about “hemophilia”

Blood. 2019 Jan 31;133(5):389-398 & Blood. 2019 Jan 31;133(5):399-406

Spinal muscular atrophy: Key role of SMN/SYNCRIP and RNA-Motif 7

Consult the PubMed abstract

To read more about “spinal muscular atrophy”

Brain. 2019 Feb 1;142(2):276-294

T-cell lymphoma: Biomarker-driven strategy for MCL1 inhibition in vitro and in vivo

Consult the PubMed abstract

To read more about “primary cutaneous T-cell lymphoma”

Blood. 2019 Feb 7;133(6):566-575

Biomarkers

Prodromal Huntington disease: DNA damage signatures in peirpheral blood cells as biomarkers

Consult the PubMed abstract

To read more about “Huntington disease”

Ann Neurol. 2019 Feb;85(2):296-301

Fibrous dysplasia of bone: Serum periostin may be a biochemical marker indicative of the most severe forms

Consult the PubMed abstract

To read more about “fibrous dysplasia of bone”

Bone. 2019 Jan 4;121:68-71

Diagnostic Approaches

Efficient variant set mixed model association tests for continuous and binary traits in large-scale whole-genome sequencing studies

Consult the PubMed abstract

Am J Hum Genet. 2019 Feb 7;104(2):260-274

Mesial temporal lobe epilepsy: In vivo metabotropic glutamate receptor type 5 abnormalities localise the epileptogenic zone

Consult the PubMed abstract

To read more about “benign familial mesial temporal lobe epilepsy”

Ann Neurol. 2019 Feb;85(2):218-228

Prader-Willi syndrome: Newborn screening is feasible and could be included in the Recommended Uniform Screening Panel after establishing a validated cost-effective method

Consult the PubMed abstract

To read more about “Prader-Willi syndrome”

Am J Med Genet A. 2019 Jan;179(1):29-36

Sanjad-Sakati syndrome: Review of the literature toward a consensus on diagnostic criteria

Consult the PubMed abstract

To read more about “Sanjad-Sakati syndrome”

Arch Pediatr. 2019 Feb;26(2):102-107

Primary vitreoretinal lymphoma: CD79B mutations and diagnostic and prognostic potential

Consult the PubMed abstract

To read more about “primary intraocular lymphoma”

Eur J Haematol. 2019 Feb;102(2):191-196

Patient Management and Therapy

Acquired aplastic anemia: A review on molecular pathogenesis

Consult the PubMed abstract

To read more about “aplastic anemia”

Eur J Haematol. 2019 Feb;102(2):103-110

Myelodysplastic syndrome with deletion 5q: A review on molecular pathogenesis

Consult the PubMed abstract

To read more about “myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality”

Eur J Haematol. 2019 Mar;102(3):203-209

Adenovirus infection in immunocompromised patients: Current practices in the management of the disease in allogeneic hematopoietic stem cell transplant recipients in Europe via the AdVance study

Consult the PubMed abstract

To read more about “adenovirus infection in immunocompromised patients”

Eur J Haematol. 2019 Mar;102(3):210-217

Chronic myeloid leukemia: A letter to the editor on treatment-free remission and pregnancy

Consult the article page

To read more about “chronic myeloid leukemia”

Eur J Haematol. 2019 Feb;102(2):197-199

Rett syndrome: An update/review on a model synaptic disorder for better diagnosis and treatment

Consult the PubMed abstract

To read more about “Rett syndrome”

Brain. 2019 Feb 1;142(2):239-248

Myelodysplastic syndrome: How to treat after hypomethylating agent failure

Consult the PubMed abstract

To read more about “myelodysplastic syndrome”

Blood. 2019 Feb 7;133(6):521-529

Cenani-Lenz syndrome and other related syndactyly disorders due to variants in LRP4, GREM1/FMN1, and APC: A review on the pathogenesis

Consult the PubMed abstract

To read more about “Cenani-Lenz syndrome”

Am J Med Genet A. 2019 Feb;179(2):266-279

Hemophilia: An update/review on clinical gene therapy

Consult the PubMed abstract

To read more about “hemophilia”

Blood. 2019 Jan 31;133(5):407-414

Hemophilia A and B: A review on management of bleeds, inhibitor eradication and strategies for difficult-to-treat patients

Consult the PubMed abstract

To read more about “hemophilia A”
To read more about “hemophilia B”

Eur J Haematol. 2019 Feb;102(2):111-122

A review on treatment of rare factor deficiencies other than hemophilia

Consult the PubMed abstract

To read more about “rare coagulation disorder”

Blood. 2019 Jan 31;133(5):415-424

Mœbius syndrome: A systematic review of the literature and statistical cluster analysis of clinical features

Consult the PubMed abstract

To read more about “Moebius syndrome”

Am J Med Genet A. 2019 Feb;179(2):257-265

Recommendations

Juvenile dermatomyositis: French expert opinion for the management

Consult the PubMed abstract

To read more about “juvenile dermatomyositis”

Arch Pediatr. 2019 Feb;26(2):120-125

Epidemiology

Cornelia de Lange: Analysis of a cohort of 246 individuals from 15 countries

Consult the PubMed abstract

To read more about “Cornelia de Lange syndrome”

Am J Med Genet A. 2019 Feb;179(2):150-158

Septic elbow arthritis in children: Epidemiology and outcome

Consult the PubMed abstract

Arch Pediatr. 2019 Jan;26(1):38-43

Summary of the edition of 28 February 2019

Editorial
Political news
Scientific news
And also...