A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family


Arslan Satilmis S. B. , Kurt E. E. , Akcay E. P. , SAZCI A. , Ceylan A. C.

JOURNAL OF GENE MEDICINE, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2021
  • Doi Number: 10.1002/jgm.3307
  • Title of Journal : JOURNAL OF GENE MEDICINE

Abstract

Background: X-linked intellectual disability type Nascimento (XIDTN) is a disorder of the ubiquitin-proteasome pathway of protein degradation controlled by the UBE2A gene. The disease is characterized by intellectual disability, speech impairment, dysmorphic facial features, skin and nail anomalies, and, frequently, seizures. Eight affected males from a four-generation family who have intellectual disability and speech disorders were examined within an extended family of 57 individuals.