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METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.

ABSTRACT: 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 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.

SUBMITTER: Caglayan AO 

PROVIDER: S-EPMC7785574 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.

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]

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