Article
OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype.
Journal of human genetics - 1 Jan 2022
Abdel-Salam Ghada M H, Abdel-Hamid Mohamed S, Sayed Inas S M, Zechner Ulrich, Bolz Hanno Jörn
Abstract excerpt
Biallelic pathogenic variants of OTUD6B have recently been described to cause intellectual disability (ID) with seizures. Here, we report the clinical and molecular characterization of five additional patients (from two unrelated Egyptian families) with ID due to homozygous OTUD6B variants. In Family I, the two affected brothers had additional retinal degeneration, a symptom not yet reported in OTUD6B-related ID....
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