Published January 1, 2022
| Version v1
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A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family
Creators
- 1. Quaid I Azam Univ, Fac Biol Sci, Dept Zool, Human Genet Program, Islamabad 45320, Pakistan
- 2. Istanbul Tech Univ, Dept Mol Biol & Genet, MOBGAM, Istanbul, Turkey
Description
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.
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