Ontology highlight
ABSTRACT:
SUBMITTER: Caglayan AO
PROVIDER: S-EPMC7785574 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Caglayan Ahmet Okay AO Aktar Fesih F Bilguvar Kaya K Baranoski Jacob F JF Akgumus Gozde Tugce GT Harmanci Akdes Serin AS Erson-Omay Emine Zeynep EZ Yasuno Katsuhito K Caksen Huseyin H Gunel Murat M
Journal of human genetics 20200806 2
Intellectual disability (ID) is a genetic and clinically heterogeneous common disease and underlying molecular pathogenesis can frequently not be identified by whole-exome/genome testing. Here, we report four siblings born to a consanguineous union who presented with intellectual disability and discuss the METAP1 pathway as a novel etiology of ID. Genomic analyses demonstrated that patients harbor a novel homozygous nonsense mutation in the gene METAP1. METAP1 codes for methionine aminopeptidase ...[more]