Article
Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2026
Canavati Christina, Oppebøen Mari, Verma Radha, Misceo Doriana, Frengen Eirik, Salvador Cathrin Lytomt, Martínez-Gil Núria, Cueto-González Anna M, Strømme Petter, Marthinsen Pål Bache, Costa-Roger Mar, Gómez-Andrés David, Vázquez Elida, Kulseth Mari Ann, Strand Mari Elen, Bjørnstad Pål Marius, Sundaram Arvind Y M, Nyman Tuula A, Server Andres, Backe Paul Hoff, Rofe Dana Sherill, Mellul Anna, Zahdeh Fouad, Renbaum Paul, Tizzano Eduardo F, Levy-Lahad Ephrat, Kanaan Moien, Aden Petra Käte, Tabach Yuval
Abstract excerpt
PURPOSE: We aimed to define the clinical and genetic basis of an autosomal recessive neurodevelopmental disorder identified in 3 unrelated families with an overlapping multisystem phenotype. METHODS: Exome or genome sequencing was performed in 6 affected individuals from 3 families, revealing biallelic variants in SUPT4H1. Functional effects were evaluated using CRISPR and RNAi knockdown in C. elegans....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.