A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family


Naqvi S. F. , Shabbir R. M. K. , Tolun A. , Basit S., Malik S.

GENETIC TESTING AND MOLECULAR BIOMARKERS, vol.26, no.1, pp.37-42, 2022 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 1
  • Publication Date: 2022
  • Doi Number: 10.1089/gtmb.2021.0231
  • Title of Journal : GENETIC TESTING AND MOLECULAR BIOMARKERS
  • Page Numbers: pp.37-42
  • Keywords: intellectual disability, short stature, small head, developmental delay, speech apraxia, MUTATIONS, EVOLUTION, GENE

Abstract

Aims: Autosomal recessive primary microcephaly (MCPH) is a clinically rare and genetically highly heterogeneous developmental disorder. Biallelic variants in the abnormal spindle-like microcephaly-associated (ASPM) gene account for 40% to 68% of all MCPH cases. This study was designed to elucidate the genetic basis of MCPH in an extended family To highlight recurrent mutations useful in implementing genetic testing programs, we further aimed to carry out a descriptive review of the reported ASPM mutations.