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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10700090 | PMC |
http://dx.doi.org/10.18240/ijo.2023.12.28 | DOI Listing |
We recently showed that mutations in and , two genes that are transcribed into small nuclear RNA (snRNA) components of the major spliceosome, are prevalent causes of dominant neurodevelopmental disorders (NDDs). By genetic association comparing 12,776 NDD cases with 56,064 controls, we now demonstrate the existence of a recessive form of syndrome that, in England, is even more common than the dominant form. We inferred log Bayes factors for dominant and recessive models of association of 14.
View Article and Find Full Text PDFIntern Med
September 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Japan.
A hypothyroid mother, due to thyroid stimulation-blocking antibody (TSBAb), gave birth three times. Although her TSBAb levels remained almost 100%, her TSH receptor antibody (TRAb) levels before delivery varied as follows: 315.0, 88.
View Article and Find Full Text PDFInt J Genomics
August 2025
Department of Hematology, The Affiliated Children's Hospital of Kunming Medical University, Kunming Medical University, Kunming, China.
MEDNIK syndrome is a rare copper metabolism disorder caused by variants. Herein, we report the clinical and genetic characteristics of MEDNIK syndrome in two siblings. The clinical treatment process for MEDNIK syndrome and over 4 years of follow-up data were analysed in two siblings.
View Article and Find Full Text PDFAutism Res
September 2025
Communiverse, Mumbai, Maharashtra, India.
LiL' STEPS (Language development & Intervention Lab's SupporTing Early social-communication and language by Promoting caregiver Sensitive responsiveness) is a novel, manualized, caregiver-mediated early support program developed in India and delivered online for infants at elevated familial likelihood for autism. The program has been found to be feasible and acceptable. The preliminary efficacy of the LiL' STEPS program, which remains to be evaluated, was assessed in this study using a feasibility randomized controlled trial design.
View Article and Find Full Text PDFArch Iran Med
July 2025
Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Background: PMM2-CDG, also known as congenital disorder of glycosylation type 1a, is the most common N-linked glycosylation disorder, characterized by a wide range of neurological and multisystem manifestations. Understanding the genotype-phenotype correlations is essential for accurate diagnosis and patient management. This study aims to identify the genetic cause of PMM2-CDG in an Iranian family with multiple affected members, and to analyze the genetic and clinical spectrum of the disorder through a comprehensive literature review.
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