METAP1mutation is a novel candidate for autosomal recessive intellectual disability
JOURNAL OF HUMAN GENETICS, cilt.66, sa.2, ss.215-218, 2021 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 66 Sayı: 2
- Basım Tarihi: 2021
- Doi Numarası: 10.1038/s10038-020-0820-0
- Dergi Adı: JOURNAL OF HUMAN GENETICS
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
- Sayfa Sayıları: ss.215-218
- Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır
Özet
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.