METAP1mutation is a novel candidate for autosomal recessive intellectual disability

ÇAĞLAYAN A. O., Aktar F., Bilguvar K., Baranoski J. F., Akgumus G. T., Harmanci A. S., ...Daha Fazla

JOURNAL OF HUMAN GENETICS, cilt.66, sa.2, ss.215-218, 2021 (SCI-Expanded) identifier identifier identifier

  • 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
  • Dokuz Eylül Üniversitesi Adresli: Evet

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.