METAP1mutation is a novel candidate for autosomal recessive intellectual disability
JOURNAL OF HUMAN GENETICS, vol.66, no.2, pp.215-218, 2021 (SCI-Expanded, Scopus)
- Publication Type: Article / Article
- Volume: 66 Issue: 2
- Publication Date: 2021
- Doi Number: 10.1038/s10038-020-0820-0
- Journal Name: JOURNAL OF HUMAN GENETICS
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Page Numbers: pp.215-218
- Dokuz Eylül University Affiliated: Yes
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 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.