New Syndromes
Biallelic GTF2IRD1 variants in brothers with profound neurodevelopmental disorder: A possible novel disorder involving a critical gene for Williams syndrome.
Am J Med Genet A . 2023 Feb;191(2):332-337
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Am J Hum Genet . 2023 Jan 5;110(1):146-160
ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.
Am J Med Genet A . 2023 Jan;191(1):90-99
New Genes
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
J Med Genet . 2023 Feb;60(2):154-162
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly
Am J Med Genet A . 2023 Mar;191(3):794-804
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Brain . 2023 Feb 13;146(2):534-548
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
Eur J Med Genet . 2023 Jan;66(1):104670
Biallelic CFAP61 variants cause male infertility in humans and mice with severe oligoasthenoteratozoospermia
https://pubmed.ncbi.nlm.nih.gov/35387802/
Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer–Rokitansky–Küster–Hauser syndrome
Hum Mol Genet . 2023 Mar 6;32(6):1032-1047
Clinical Research
Autosomal recessive malignant osteopetrosis : OSTM1 gene & Clinical features; A retrospective, single-center experience over one decade
Am J Med Genet A . 2023 Feb;191(2):459-468
Charcot–Marie–Tooth : MPZ mutations & Disease Progression ; A Longitudinal Study
Ann Neurol . 2023 Mar;93(3):563-576
Cancer : Sex disparity in childhood, in India ; Multi-centre, individual patient data analysis
Lancet Oncol . 2023 Jan;24(1):54-63
Osteogenesis imperfecta : Pain characteristics evaluation ; A multicenter study
Am J Med Genet A . 2023 Jan;191(1):160-172
Duchenne muscular dystrophy : Wearable full-body motion tracking of activities of daily living predicts disease trajectory
Nat Med . 2023 Jan;29(1):95-103
Friedreich ataxia : Predict disease progression with a wearable motion capture suit and machine learning
Nat Med . 2023 Jan;29(1):86-94
Systemic lupus erythematosus (active) : Phase III Extension Trial, Long-Term Safety and Tolerability of Anifrolumab ; A Randomized, Placebo-Controlled
Arthritis Rheumatol . 2023 Feb;75(2):253-265
Cold agglutinin disease : Phase 3, Sutimlimab provides clinically meaningful improvements in patient-reported outcomes ; CADENZA study: results from the randomised, placebo-controlled
Eur J Haematol . 2023 Mar;110(3):280-288
Squamous cell carcinoma of the esophagus (PD-L1-positive) : Phase 3 , "First-line serplulimab" VS "Placebo + chemotherapy" ; A randomized, double-blind
Nat Med . 2023 Feb;29(2):473-482
Hereditary angioedema : Phase 2, An investigational oral plasma kallikrein inhibitor for on-demand treatment ; A two-part, randomised, double-blind, placebo-controlled, crossover trial
Lancet . 2023 Feb 11;401(10375):458-469
Systemic lupus erythematosus : Phase II, Deucravacitinib, a Tyrosine Kinase 2 Inhibitor ; A Randomized, Double-Blind, Placebo-Controlled Trial
Arthritis Rheumatol . 2023 Feb;75(2):242-252
Steinert myotonic dystrophy : Phase 1/2a, Antisense oligonucleotide targeting DMPK ; A multicentre, randomised, dose-escalation, placebo-controlled trial
Lancet Neurol . 2023 Mar;22(3):218-228
Sanfilippo syndrome type B : Phase I/II, Intracerebroventricular tralesinidase alfa
J Clin Invest . 2023 Jan 17;133(2):e165076
Early infantile epileptic encephalopathy : Pediatrics, Memantine ; Randomized placebo-controlled crossover trial
Brain . 2023 Mar 1;146(3):873-879
Systemic lupus erythematosus : Belimumab use during pregnancy... a summary of birth defects and pregnancy loss from clinical trials, a pregnancy registry and postmarketing reports
Ann Rheum Dis . 2023 Feb;82(2):217-225
Hemophilia B: Gene Therapy with Etranacogene Dezaparvovec
N Engl J Med . 2023 Feb 23;388(8):706-718
SCID : Lentiviral Gene Therapy for Artemis-Deficient
N Engl J Med . 2022 Dec 22;387(25):2344-2355
Systemic sclerosis : Myeloablative autologous haematopoietic stem cell transplantatian resets the B cell repertoire to a more naïve state
Ann Rheum Dis . 2023 Mar;82(3):357-364
Multiple myeloma (newly diagnosed) : Evaluation of the Mayo Additive Staging System ; A real-world analysis
Eur J Haematol . 2023 Mar;110(3):229-235
Systemic lupus erythematosus : Measuring the Impact of MyLupusGuideTM in Canada ; Results of a Randomized Control Study
Arthritis Care Res (Hoboken) . 2023 Mar;75(3):529-539
Chronic Lymphocytic Leukemia (Relapsed or Refractory) : Zanubrutinib VS Ibrutinib
N Engl J Med . 2023 Jan 26;388(4):319-332
Prader-Willi syndrome, with obesity : Liraglutide for Weight Management in Children and Adolescents
J Clin Endocrinol Metab . 2022 Dec 17;108(1):4-12
Pheochromocytoma-paraganglioma : Tyrosine Kinase Inhibitors... efficacy and safety
J Clin Endocrinol Metab . 2023 Feb 15;108(3):755-766
Association Between Serum Lipids and Survival in Patients With Amyotrophic Lateral Sclerosis: A Meta-analysis and Population-Based Study
Neurology . 2023 Mar 7;100(10):e1062-e1071
Acute lymphoblastic leukemia : Hyper-CVAD induction chemotherapy & Real-world utility of early measurable residual disease assessments by multi-parametric flow cytometry in adult
Eur J Haematol . 2023 Feb;110(2):168-176
Hemophilia A : Efanesoctocog Alfa Prophylaxis
N Engl J Med . 2023 Jan 26;388(4):310-318
X-linked hypophosphatemia : Long-term Burosumab Administration Is Safe and Effective
J Clin Endocrinol Metab . 2022 Dec 17;108(1):155-165
Therapeutic Approaches
Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA
Gene Ther . 2023 Feb;30(1-2):107-114
Disease correction in mucopolysaccharidosis type IIIB mice by intraparenchymal or cisternal delivery of a capsid modified AAV8 codon-optimized NAGLU vector
Hum Mol Genet . 2023 Jan 13;32(3):417-430
Intracerebral lentiviral ABCD1 gene therapy in an early disease onset ALD mouse model
Gene Ther . 2023 Feb;30(1-2):18-30
Combinatorial treatment with exercise and AICAR potentiates the rescue of myotonic dystrophy type 1 mouse muscles in a sex-specific manner
Hum Mol Genet . 2023 Jan 27;32(4):551-566
Biomarkers
Validation of disease-specific biomarkers for the early detection of bronchopulmonary dysplasia
Pediatr Res . 2023 Feb;93(3):625-632
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency
Brain . 2023 Jan 5;146(1):252-265
Diagnostic Approaches
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience
Am J Med Genet A . 2023 Feb;191(2):338-347
Diagnostic role of thyroid elastography in pediatric patients with Hashimoto's thyroiditis and Graves’ disease: A prospective controlled study
Arch Pediatr . 2023 Feb;30(2):104-108
Patient Management and Therapy
Immune checkpoint blockade in glioblastoma: from tumor heterogeneity to personalized treatment
J Clin Invest . 2023 Jan 17;133(2):e163447
Use of mTOR inhibitors (rapalogs) for the treatment of skin changes in tuberous sclerosis complex
Arch Pediatr . 2022 Dec;29(5S):5S20-5S24
Merkel cell carcinoma: epidemiology, clinical features, diagnosis and treatment of a rare disease
An Bras Dermatol . 2023 Mar 2;S0365-0596(23)00021-1
Recommendations
Overview of Asian clinical practice guidelines for the management of hepatocellular 1carcinoma: Asian perspectivecomparison
Clin Mol Hepatol . 2023 Mar 10
Clinical Practice Guidelines for Hepatocellular Carcinoma: The Japan Society of Hepatology 2021 version (5th JSH-HCC Guidelines)
https://pubmed.ncbi.nlm.nih.gov/36826411/
European Journal of Medical Genetics European standard clinical practice – Key issues for the medical care of individuals with familial leukemia
Eur J Med Genet . 2023 Apr;66(4):104727
Epidemiology
Global epidemiology of systemic lupus erythematosus: A comprehensive systematic analysis and modelling study
Ann Rheum Dis . 2023 Mar;82(3):351-356
Prevalence of smoldering multiple myeloma based on nationwide screening.
Nat Med . 2023 Feb;29(2):467-472
Progressive multifocal leukoencephalopathy: epidemiology and spectrum of predisposing conditions
Brain . 2023 Jan 5;146(1):349-358
Quality of Life
Personal social networks of people with Down syndrome
Am J Med Genet A . 2023 Mar;191(3):690-698
Summary of the edition of 28 April 2023
