@article {808,
	title = {METAP1 mutation is a novel candidate for autosomal recessive intellectual disability.},
	journal = {J Hum Genet},
	volume = {66},
	year = {2021},
	month = {2021 Feb},
	pages = {215-218},
	abstract = {<p>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.</p>},
	issn = {1435-232X},
	doi = {10.1038/s10038-020-0820-0},
	author = {{\c C}a{\u g}layan, Ahmet Okay and Aktar, Fesih and Bilguvar, Kaya and Baranoski, Jacob F and Akg{\"u}m{\"u}{\c s}, G{\"o}zde Tu{\u g}ce and Harmanci, Akdes Serin and Erson-Omay, Emine Zeynep and Yasuno, Katsuhito and Caksen, Huseyin and G{\"u}nel, Murat}
}
