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

Autor: Caglayan AO; Department of Medical Genetics, School of Medicine, Dokuz Eylul University, 35340, Izmir, Turkey. ahmetokay.caglayan@deu.edu.tr., Aktar F; Department of Pediatrics, School of Medicine, Dicle University, 21060, Diyarbakir, Turkey., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, 06510, USA., Baranoski JF; Department of Neurosurgery, Neurobiology and Genetics, New Haven, CT, 06520-8082, USA., Akgumus GT; Department of Neurosurgery, Neurobiology and Genetics, New Haven, CT, 06520-8082, USA., Harmanci AS; Department of Neurosurgery, Neurobiology and Genetics, New Haven, CT, 06520-8082, USA., Erson-Omay EZ; Department of Neurosurgery, Neurobiology and Genetics, New Haven, CT, 06520-8082, USA., Yasuno K; Department of Neurosurgery, Neurobiology and Genetics, New Haven, CT, 06520-8082, USA., Caksen H; Division of Pediatric Neurology and Genetics, Department of Pediatrics, Meram Medical Faculty, Necmettin Erbakan University, 42080, Konya, Turkey., Gunel M; Department of Neurosurgery, Neurobiology and Genetics, New Haven, CT, 06520-8082, USA.
Jazyk: angličtina
Zdroj: Journal of human genetics [J Hum Genet] 2021 Feb; Vol. 66 (2), pp. 215-218. Date of Electronic Publication: 2020 Aug 06.
DOI: 10.1038/s10038-020-0820-0
Abstrakt: 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.
Databáze: MEDLINE
Externí odkaz: