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Article

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

Journal of human genetics - 1 Feb 2021

Caglayan Ahmet Okay, Aktar Fesih, Bilguvar Kaya, Baranoski Jacob F, Akgumus Gozde Tugce, Harmanci Akdes Serin, Erson-Omay Emine Zeynep, Yasuno Katsuhito, Caksen Huseyin, Gunel Murat

Abstract excerpt

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...

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Identifiers

PMID: 32764695
DOI: 10.1038/s10038-020-0820-0
PMCID: PMC7785574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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