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Edition of 16 November 2021

New Syndromes

PRKAR1B heterozygous missense variants cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

A new study published in Genetics in Medicine identified biallelic mutations in PRKAR1B, within six unrelated individuals who express intellectual disability, autism spectrum disorder, and apraxia/dyspraxia. One individual also shows reduced pain sensitivity, and one variant is common to four individuals. In vitro analyses provide strong evidence for a PRKAR1B-related neurodevelopmental disorder.PRKAR1B heterozygous missense variants cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Genet Med. 2021; 23(8): 1465–1473

YARS1 heterozygous partial loss of function variants involved in multisystem disease

A new study published in the European Journal of Medical Genetics identified mutations in YARS1, within one individual who expresses multi-systemic disease. Whereas he shows overlapping clinical findings with ten patients (from three families) from another study (failure to thrive, developmental delay, liver dysfunction, and lung cysts), he presents a much more severe condition. He also differs by its two monoallelic variants (other patients have biallelic ones). Cells analysis suggest an hypothesis for a partial loss-of-function mechanism.

Eur J Med Genet . 2021 Oct;64(10):104294

HID1 loss-of-function variants cause Syndromic Infantile Encephalopathy and Hypopituitarism

A new study published in Annals of Neurology identified biallelic variants in HID1 domain-containing protein 1 (HID1), within seven individuals (from six unrelated families) who express hypopituitarism in combination with brain atrophy, thin corpus callosum, severe developmental delay, visual impairment, and epilepsy. Postmortem analysis (histopathological and gene expression) indicate these mutations cause an early infantile encephalopathy with hypopituitarism as the leading presentation. The finding expands the list of syndromic CNS diseases (central nervous system) caused by interference of TGN function (trans-Golgi network).

Ann Neurol. 2021 Jul; 90(1): 143–158.

New Genes

Further evidence for de novo variants in SYNCRIP as the cause of a neurodevelopmental disorder

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

Hum Mutat . 2021 Sep;42(9):1094-1100

Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conduction

To read more about “Familial isolated dilated cardiomyopathy”

Hum Mutat . 2021 Oct;42(10):1279-1293

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features

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

J Med Genet . 2021 Oct;58(10):712-716

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

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

Brain. 2021 Jul; 144(7): 2092–2106

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis

To read more about “Familial intrahepatic cholestasis”

J Med Genet . 2021 Aug;58(8):514-525

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

To read more about “Tritanopia”

Hum Mol Genet. 2021 Jul 1; 30(13): 1218–1229

A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract

To read more about “Early-onset partial cataract”

Eur J Hum Genet. 2021 Aug; 29(8): 1206–1215

Biomarkers

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy

To read more about “Pyridoxine-dependent epilepsy”

J Clin Invest . 2021 Aug 2;131(15):e148272

Status and Recommendations for Incorporating Biomarkers for Cutaneous Neurofibromas Into Clinical Research

To read more about “Neurofibromatosis type 1”

Neurology . 2021 Aug 17;97(7 Suppl 1):S42-S49

Specific Follicular Helper T Cell Signature in Takayasu Arteritis

Arthritis Rheumatol . 2021 Jul;73(7):1233-1243

Serum Laminin γ2 Monomer as a Diagnostic and Predictive Biomarker for Hepatocellular Carcinoma

To read more about “Hepatocellular carcinoma”

Hepatology . 2021 Aug;74(2):760-775

Selection Approach to Identify the Optimal Biomarker Using Quantitative Muscle MRI and Functional Assessments in Becker Muscular Dystrophy

To read more about “Becker muscular dystrophy”

Neurology . 2021 Aug 3;97(5):e513-e522

Alterations of a serum marker of collagen X in growing children with osteogenesis imperfecta

To read more about “Osteogenesis imperfecta”

Bone . 2021 Aug;149:115990

Clinical Research

Natural history study of adults with Wolf-Hirschhorn syndrome 2: Patient-reported outcomes study

To read more about “Wolf-Hirschhorn syndrome”

Am J Med Genet A . 2021 Jul;185(7):2065-2069

Natural history study of adults with Wolf-Hirschhorn syndrome 1: Case series of personally observed 35 individuals

To read more about “Wolf-Hirschhorn syndrome”

Am J Med Genet A . 2021 Jun;185(6):1794-1802

Long-term outcome in patients with juvenile dermatomyositis: A case series

To read more about “Juvenile dermatomyositis”

Arch Pediatr . 2021 Aug;28(6):475-479

Increased Mortality Risk in Patients With Primary and Secondary Adrenal Insufficiency

To read more about “Primary adrenal insufficiency”

J Clin Endocrinol Metab . 2021 Jun 16;106(7):e2759-e2768

Incidence of Complications in 25 Adult Patients With X-linked Hypophosphatemia

To read more about “X-linked hypophosphatemia”

J Clin Endocrinol Metab . 2021 Aug 18;106(9):e3682-e3692

Impact of age on the cumulative risk of transformation in patients with chronic myelomonocytic leukaemia

To read more about “Chronic myelomonocytic leukemia”

Eur J Haematol. 2021 Aug; 107(2): 265–274.

Evaluation of sleep-disordered breathing and its relationship with respiratory parameters in children with mucopolysaccharidosis Type IVA and VI

To read more about “Mucopolysaccharidosis type 4A”
To read more about “Mucopolysaccharidosis type 6”

Am J Med Genet A . 2021 Aug;185(8):2306-2314

NTRK and RET fusion-directed therapy in pediatric thyroid cancer yields a tumor response and radioiodine uptake

To read more about “Familial papillary thyroid carcinoma with renal papillary neoplasia”

J Clin Invest . 2021 Sep 15;131(18):e144847

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial

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

Lancet Neurol . 2021 Oct;20(10):832-841

Isatuximab, carfilzomib, and dexamethasone in relapsed multiple myeloma (IKEMA): a multicentre, open-label, randomised phase 3 trial

To read more about “Multiple myeloma”

Lancet . 2021 Jun 19;397(10292):2361-2371

Metronomic capecitabine as adjuvant therapy in locoregionally advanced nasopharyngeal carcinoma: a multicentre, open-label, parallel-group, randomised, controlled, phase 3 trial

To read more about “Nasopharyngeal carcinoma”

Lancet . 2021 Jul 24;398(10297):303-313

First-line nivolumab plus chemotherapy versus chemotherapy alone for advanced gastric, gastro-oesophageal junction, and oesophageal adenocarcinoma (CheckMate 649): a randomised, open-label, phase 3 trial

To read more about “Adenocarcinoma of the esophagus”

Lancet , 2021; 398 (10294), 27-40

KTE-X19 for relapsed or refractory adult B-cell acute lymphoblastic leukaemia: phase 2 results of the single-arm, open-label, multicentre ZUMA-3 study

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

Lancet . 2021 Aug 7;398(10299):491-502

Lenvatinib plus pembrolizumab in patients with either treatment-naive or previously treated metastatic renal cell carcinoma (Study 111/KEYNOTE-146): a phase 1b/2 study

To read more about “Renal cell carcinoma”

Lancet Oncol . 2021 Jul;22(7):946-958

Lenvatinib with etoposide plus ifosfamide in patients with refractory or relapsed osteosarcoma (ITCC-050): a multicentre, open-label, multicohort, phase 1/2 study

To read more about “Osteosarcoma”

Lancet Oncol . 2021 Sep;22(9):1312-1321

One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency

To read more about “Niemann-Pick disease type A”

Genet Med . 2021 Aug;23(8):1543-1550

Molecular classification and prognosis in younger adults with acute myeloid leukemia and intermediate-risk cytogenetics treated or not by gemtuzumab ozogamycin: Final results of the GOELAMS/FILO acute myeloid leukemia 2006-intermediate-risk trial

To read more about “Acute myeloid leukemia”

Eur J Haematol . 2021 Jul;107(1):111-121

Patient Report of Hearing in Neurofibromatosis Type 2: Recommendations for Clinical Trials

To read more about “Neurofibromatosis type 2”

Neurology . 2021 Aug 17;97(7 Suppl 1):S64-S72

Parent clinical trial priorities for fragile X syndrome: a best-worst scaling

To read more about “Fragile X syndrome”

Eur J Hum Genet . 2021 Aug;29(8):1245-1251

Oral ixazomib, lenalidomide, and dexamethasone for transplant-ineligible patients with newly diagnosed multiple myeloma

To read more about “Multiple myeloma”

Blood . 2021 Jul 1;137(26):3616-3628

Off-on-off-on use of imatinib in three children with fibrodysplasia ossificans progressiva

To read more about “Fibrodysplasia ossificans progressiva”

Bone . 2021 Sep;150:116016

Mycophenolate Mofetil for First-Line Treatment of Immune Thrombocytopenia

To read more about “Immune thrombocytopenia”

N Engl J Med . 2021 Sep 2;385(10):885-895

mTOR inhibitors reduce enteropathy, intestinal bleeding and colectomy rate in patients with juvenile polyposis of infancy with PTEN-BMPR1A deletion

To read more about “Juvenile polyposis of infancy”

Hum Mol Genet . 2021 Jun 26;30(14):1273-1282

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study

To read more about “Congenital hypothyroidism”

J Pharmacokinet Pharmacodyn . 2021 Oct;48(5):711-723

Long-term tolerability of phosphodiesterase-5 inhibitors in pulmonary hypertension of sickle cell disease

To read more about “Sickle cell anemia”

Eur J Haematol . 2021 Jul;107(1):54-62

Involvement of mental health professionals in the treatment of tuberous sclerosis complex–associated neuropsychiatric disorders (TAND): results of a multinational European electronic survey

To read more about “Tuberous sclerosis complex”

Orphanet J Rare Dis . 2021 May 12;16(1):216

Healthcare resource utilisation and sickness absence in newly diagnosed multiple myeloma patients who did not undergo autologous stem cell transplantation: Trends in Sweden with the changing treatment landscape

To read more about “Multiple myeloma”

Eur J Haematol . 2021 Jul;107(1):92-103

Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

To read more about “Fabry disease”

J Med Genet . 2021 Oct;58(10):692-700

Effects of Growth Hormone Treatment on Sleep-Related Parameters in Adults With Prader-Willi Syndrome

To read more about “Prader-Willi syndrome”

J Clin Endocrinol Metab. 2021 Sep; 106(9): e3634–e3643

Dose intensity and treatment duration of bortezomib in transplant-ineligible newly diagnosed multiple myeloma

To read more about “Multiple myeloma”

Eur J Haematol . 2021 Aug;107(2):246-254

Does Muscle Strength Change Over Time in Patients With Hypermobile Ehlers-Danlos Syndrome/Hypermobility Spectrum Disorder? An 8-Year Follow-up Study

To read more about “Hypermobile Ehlers-Danlos syndrome”

Arthritis Care Res (Hoboken) . 2021 Jul;73(7):1041-1048

Denosumab Reduces Lesional Fluoride Skeletal Burden on Na[18F]F PET-CT in Patients with Fibrous Dysplasia/McCune-Albright Syndrome

To read more about “Fibrous dysplasia/McCune-Albright syndrome”

J Clin Endocrinol Metab. 2021 Aug; 106(8): e2980–e2994

Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative

Eur J Med Genet . 2021 Jul;64(7):104245

Cumulative exposure to melphalan chemotherapy and subsequent risk of developing acute myeloid leukemia and myelodysplastic syndromes in patients with multiple myeloma.

To read more about “Multiple myeloma”

Eur J Haematol . 2021 Aug;107(2):275-282

Clinical features of central nervous system involvement in patients with eosinophilic granulomatosis with polyangiitis: a retrospective cohort study in China

To read more about “Eosinophilic granulomatosis with polyangiitis”

Orphanet J Rare Dis 16, 152 (2021)

Cerebral Oxygen Metabolic Stress, Microstructural Injury, and Infarction in Adults With Sickle Cell Disease

To read more about “Sickle cell anemia”

Neurology . 2021 Aug 31;97(9):e902-e912

Camrelizumab versus placebo in combination with gemcitabine and cisplatin as first-line treatment for recurrent or metastatic nasopharyngeal carcinoma (CAPTAIN-1st): a multicentre, randomised, double-blind, phase 3 trial

To read more about “Nasopharyngeal carcinoma”

Lancet Oncol, Volume 22, issue 8, p1162-1174, august 01, 2021

BK virus-specific T cells for immunotherapy of progressive multifocal leukoencephalopathy: an open-label, single-cohort pilot study

To read more about “Progressive multifocal leukoencephalopathy”

Lancet , 2021; 20, 8, p639-652, august 01

Association of Hydroxychloroquine Use With Decreased Incident Atrial Fibrillation in Systemic Lupus Erythematosus

To read more about “Systemic lupus erythematosus”

Arthritis Care Res (Hoboken) . 2021 Jun;73(6):828-832

Association between red blood cell transfusion dependence and burden in patients with myelodysplastic syndromes: A systematic literature review and meta-analysis

To read more about “Myelodysplastic syndrome”

Eur J Haematol . 2021 Jul;107(1):3-23

Activated factor VIII-mimicking effect by emicizumab on thrombus formation in type 2N von Willebrand disease under high shear flow conditions

To read more about “Von Willebrand disease type 2N”

Thromb Res . 2021 Feb;198:7-16

Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

To read more about “Achondroplasia”

Genet Med. 2021; 23(8): 1498–1505

Achievement of the 2019 European Alliance of Associations for Rheumatology/American College of Rheumatology Criteria for Systemic Lupus Erythematosus and Amount of Damage Accrual: Results From a Multiethnic Multicenter Cohort

To read more about “Systemic lupus erythematosus”

Arthritis Care Res (Hoboken) . 2021 Jul;73(7):1038-1040

A descriptive cost-analysis of MYX.1/MCRN003, a phase 2 clinical trial evaluating high-dose weekly carfilzomib, cyclophosphamide, and dexamethasone in relapsed and refractory multiple myeloma

To read more about “Multiple myeloma”

Eur J Haematol . 2021 Sep;107(3):333-342

Diagnostic Approaches

Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies

Eur J Med Genet . 2021 Sep;64(9):104288

Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.

Eur J Med Genet . 2021 Jul;64(7):104247

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic

To read more about “Neurofibromatosis type 2”

J Med Genet . 2021 Oct;58(10):701-711

Lupus or not? SLE Risk Probability Index (SLERPI): a simple, clinician-friendly machine learning-based model to assist the diagnosis of systemic lupus erythematosus

To read more about “Systemic lupus erythematosus”

An Rheum Dis, 2021;80:758-766.

Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study

Hum Mutat . 2021 Aug;42(8):990-1004

Genome sequencing in congenital cataracts improves diagnostic yield

Hum Mutat . 2021 Sep;42(9):1173-1183

Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo

To read more about “Down syndrome”

Eur J Med Genet . 2021 Sep;64(9):104267

Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening

To read more about “Glutaryl-CoA dehydrogenase deficiency”

Orphanet J Rare Dis . 2021 Aug 3;16(1):339

Therapeutic Approaches

TBN improves motor function and prolongs survival in a TDP-43M337V mouse model of ALS

To read more about “Amyotrophic lateral sclerosis”

Hum Mol Genet . 2021 Jul 28;30(16):1484-1496

Regulation of Monocyte Adhesion and Type I Interferon Signaling by CD52 in Patients With Systemic Sclerosis

To read more about “Systemic Sclerosis”

Arthritis Rheumatol 2021 Sep;73(9):1720-1730

Perineuronal net degradation rescues CA2 plasticity in a mouse model of Rett syndrome

To read more about “Rett syndrome”

J Clin Invest . 2021 Aug 16;131(16):e137221

PAK1 inhibition reduces tumor size and extends the lifespan of mice in a genetically engineered mouse model of Neurofibromatosis Type 2 (NF2)

To read more about “Neurofibromatosis type 2”

Hum Mol Genet . 2021 Aug 12;30(17):1607-1617

Muscle transcriptome in mouse models of osteogenesis imperfecta

To read more about “Osteogenesis imperfecta”

Bone . 2021 Jul;148:115940.

Increasing LRP4 diminishes neuromuscular deficits in a mouse model of Duchenne muscular dystrophy

To read more about “Duchenne muscular dystrophy”

Hum Mol Genet . 2021 Aug 12;30(17):1579-1590

Gene therapy reforms photoreceptor structure and restores vision in NPHP5-associated Leber congenital amaurosis

To read more about “Leber congenital amaurosis”

Mol Ther . 2021 Aug 4;29(8):2456-2468

Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells

To read more about “Angelman syndrome”

Hum Mol Genet . 2021 Jun 9;30(12):1067-1083

Eosinophil ETosis-Mediated Release of Galectin-10 in Eosinophilic Granulomatosis With Polyangiitis

To read more about “Eosinophilic granulomatosis with polyangiitis”

Arthritis Rheumatol . 2021 Sep;73(9):1683-1693

Coordinated β-globin expression and α2-globin reduction in a multiplex lentiviral gene therapy vector for β-thalassemia

To read more about “Beta-thalassemia”

Mol Ther . 2021 Sep 1;29(9):2841-2853

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

To read more about “Retinitis pigmentosa”

Mol Ther . 2021 Aug 4;29(8):2441-2455

Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice

To read more about “Nemaline myopathy”

Hum Mol Genet . 2021 Jun 26;30(14):1305-1320

AAV3-miRNA vectors for growth suppression of human hepatocellular carcinoma cells in vitro and human liver tumors in a murine xenograft model in vivo

To read more about “Hepatocellular carcinoma”

Gene Ther . 2021 Aug;28(7-8):422-434

Patient Management and Therapy

The genetic architecture of primary biliary cholangitis

To read more about “Primary biliary cholangitis”

Eur J Med Genet . 2021 Sep;64(9):104292

Osteogenesis imperfecta in children

To read more about “Osteogenesis imperfecta”

Bone, 2021, 148, 115914

Leukodystrophies in Children: Diagnosis, Care, and Treatment

To read more about “Leukodystrophy”

Pediatrics . 2021 Sep;148(3):e2021053126

Congenital erythrocytosis

To read more about “Congenital secondary polycythemia”

Eur J Haematol . 2021 Jul;107(1):29-37

Chimeric Antigen Receptor T-Cell Therapy in Glioblastoma: Current and Future

To read more about “Glioblastoma”

Front Immunol . 2020 Nov 3;11:594271

Recommendations

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

To read more about “Neurofibromatosis type 1”
To read more about “Legius syndrome”

Genet Med . 2021 Aug;23(8):1506-1513

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteri

To read more about “Alport syndrome”

Eur J Hum Genet . 2021 Aug;29(8):1186-1197

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Antineutrophil Cytoplasmic Antibody-Associated Vasculitis

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

Anti-neutrophil cytoplasmic antibody-associated vasculitis

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Polyarteritis Nodosa

To read more about “Polyarteritis nodosa”

Arthritis Rheumatol . 2021 Aug;73(8):1366-1383

2021 American College of Rheumatology/Vasculitis Foundation Guideline for the Management of Giant Cell Arteritis and Takayasu Arteritis

To read more about “Giant cell arteritis”
To read more about “Takayasu arteritis”

Arthritis Rheumatol . 2021 Aug;73(8):1366-1383

Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study

To read more about “Down syndrome”

Eur J Med Genet . 2021 Oct;64(10):104290

Recommendations for Social Skills End Points for Clinical Trials in Neurofibromatosis Type 1

To read more about “Neurofibromatosis type 1”

Neurology . 2021 Aug 17;97(7 Suppl 1):S73-S80

Epidemiology

The incidence and prevalence of patients with paroxysmal nocturnal haemoglobinuria and aplastic anaemia PNH syndrome: A retrospective analysis of the UK's population-based haematological malignancy research network 2004-2018

Eur J Haematol . 2021 Aug;107(2):211-218

Survival of patients with rare diseases : a population ‑ based study in Tuscany ( Italy )

Orphanet J Rare Dis . 2021 Jun 14;16(1):275

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

Front Genet . 2021 Aug 30;12:678957

Demographics, in-hospital analysis, and prevalence of 33 rare diseases with effective treatment in Shanghai

Orphanet J Rare Dis . 2021 Jun 8;16(1):262

Summary of the edition of 16 November 2021

Editorial
- Editorial
- European Reference Networks
Political news
Scientific news
And also...