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ISSN 0564-3783
Cytology and Genetics
 
 
TSitologiya i Genetika 2026, vol. 60, no. 2, 102-104
Cytology and Genetics , vol. , no. , , doi: https://www.doi.org/

A novel missense substitution in NSUN2 and a stop codon in ASPM causes neurological disorders in Pakistani families

Kakar K., Bazai F.K., Naudhani S., Daud S., Zafar A., Tariq B., Ahmad A., Mustafa M.Z., Ahmad J., Khan M.A.

  1. Centre for Advanced Studies in Vaccinology and Biotechnology, University of Balochistan, Quetta, Pakistan
  2. Department of Health, Government of Balochistan, Quetta, Pakistan
  3. Department of Biotechnology, BUITEMS, Quetta, Pakistan
  4. Gulab Devi Hospital, Lahore, Pakistan
  5. Department of Pharmacy, University of the Punjab, Lahore, Pakistan
  6. Department of Pharmaceutical Sciences, University of Toronto, Canada
  7. Continental Medical College and Hayat Memorial Hospital, Lahore, Pakistan
  8. Lahore General Hospital, Lahore, Pakistan
  9. Montreal Neurological Institute, McGill University, Montreal, Canada

To identify disease-causing variants, whole exome sequencing and subsequent Sanger sequencing were performed. As a result, in one of the families, a novel homozygous missense substitution in the NSUN2 gene and a stop codon in the ASPM gene in the other family were identified. Sequence analysis confirmed a homozygous pathogenic variant (c.1853G>T, p.Arg618Ile) in NSUN2 (NM_017755.6) and a stop codon (c.3978G>A, p.Tryp1326X) in ASPM (NM_018136.5). Our results broadened the mutational spectrum of both genes (NSUN2 and ASPM) causing neurological disorders in the affected individuals of Pakistani families.

Keywords: NSUN2, ASPM, MRT5, MCPH, інтелектуальна недостатність, мікроцефалія

TSitologiya i Genetika
2026, vol. 60, no. 2, 102-104

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