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, vol.23, no.2, 2021 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 2
  • Publication Date: 2021
  • Doi Number: 10.1002/jgm.3307
  • Journal Name: JOURNAL OF GENE MEDICINE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE
  • Keywords: array comparative genomic hybridization, novel mutation, UBE2A, whole-exome sequencing, X-linked intellectual disability, DEFICIENCY SYNDROME, INDIVIDUALS, SIBLINGS, YIELD
  • Kocaeli University Affiliated: Yes

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.