METAP1mutation is a novel candidate for autosomal recessive intellectual disability

Çağlayan, Ahmet OkayAktar, FesihBilguvar, KayaBaranoski, Jacob F.Akgümüş, Gözde TuğçeHarmancı, Akdes SerinErson-Omay, Emine ZeynepYasuno, KatsuhitoÇaksen, HüseyinGünel, Murat2021-09-072021-09-072021Caglayan, A.O., Aktar, F., Bilguvar, K., Baranoski, J.F., Akgümüş, G.T., Harmanci, A.S. ve diğerleri. (2021). METAP1mutation is a novel candidate for autosomal recessive intellectual disability. Journal of Human Genetics, 66(2), 215-218.1434-51611435-232Xhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785574/pdf/nihms-1615319.pdfhttps://hdl.handle.net/11468/7464WOS:000556668300001PubMed ID32764695Intellectual disability (ID) is a genetic and clinically heterogenous common disease and underlying molecular pathogenesis can frequently not be identified by whole- exome/genome testing. Here, we report 4 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. 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.eninfo:eu-repo/semantics/openAccessMETAP1mutationAutosomal recessiveMETAP1mutation is a novel candidate for autosomal recessive intellectual disabilityArticle662215218WOS:0005566683000012-s2.0-850890731593276469510.1038/s10038-020-0820-0Q2Q3