A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child

Makanko Komara, Aisha M. Al-Shamsi, Salma Ben-Salem, Bassam R. Ali, Lihadh Al-Gazali

Research output: Contribution to journalArticlepeer-review

29 Citations (Scopus)

Abstract

Intellectual disability (ID) is a major public health burden on most societies with significant socioeconomic costs. It has been shown that genetic mutations in numerous genes are responsible for a proportion of hereditary forms of ID. NOP2/Sun transfer RNA (tRNA) methyltransferase family member 2 encoded by NSUN2 gene is a highly conserved protein and has been shown to cause autosomal recessive ID type 5 (MRT5). In this study, we recruited an Emirati consanguineous family with a patient diagnosed with ID. Whole-exome sequencing revealed a homozygous variant c.1020delA in NSUN2 gene. The variants segregated in an autosomal recessive mode of inheritance in the family. This variant is novel and causes a frameshift and premature stop codon. At the messenger RNA (mRNA) level, relative expression analysis showed a decreased level of NSUN2 mRNA in the affected child compared to a healthy individual. Mutation prediction analysis and clinical investigation confirmed the pathogenic nature of the identified variant. We therefore conclude that c.1020delA mutation in NSUN2 is most likely the cause of ID in our patient.

Original languageEnglish
Pages (from-to)393-399
Number of pages7
JournalJournal of Molecular Neuroscience
Volume57
Issue number3
DOIs
Publication statusPublished - Nov 1 2015

Keywords

  • Intellectual disability
  • NSUN2
  • UAE
  • tRNA methylation

ASJC Scopus subject areas

  • Cellular and Molecular Neuroscience

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