METAP1mutation is a novel candidate for autosomal recessive intellectual disability

Caglayan, Ahmet OkayAktar, FesihBilguvar, KayaBaranoski, Jacob F.Akgumus, Gozde TugceHarmanci, Akdes SerinErson-Omay, Emine Zeynep2024-02-232024-02-2320211434-51611435-232Xhttps://doi.org/10.1038/s10038-020-0820-0https://hdl.handle.net/20.500.12452/12755Intellectual 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 theMETAP1pathway as a novel etiology of ID. Genomic analyses demonstrated that patients harbor a novel homozygous nonsense mutation in the geneMETAP1.METAP1codes for methionine aminopeptidase 1 (MetAP1) which oversees the co-translational excision of the first methionine remnants in eukaryotes. The loss-of-function mutations to this gene may result in a defect in the translation of many essential proteins within a cell. Improper neuronal function resulting from this loss of essential proteins could lead to neurologic impairment and ID.eninfo:eu-repo/semantics/openAccess[Keyword Not Available]METAP1mutation is a novel candidate for autosomal recessive intellectual disabilityArticle662215218327646952-s2.0-85089073159Q2WOS:000556668300001Q310.1038/s10038-020-0820-0