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

@article{Komara2015ANS,
  title={A Novel Single-Nucleotide Deletion (c.1020delA) in NSUN2 Causes Intellectual Disability in an Emirati Child},
  author={Makanko Komara and Aisha M. Al-Shamsi and Salma Ben-Salem and Bassam R Ali and Lihadh Al-Gazali},
  journal={Journal of Molecular Neuroscience},
  year={2015},
  volume={57},
  pages={393-399}
}
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… CONTINUE READING
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