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

Genetic testing and molecular biomarkers - 1 Jan 2022

Naqvi Syeda Farwa, Shabbir Rana Muhammad Kamran, Tolun Aslıhan, Basit Sulman, Malik Sajid

Abstract excerpt

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...

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Identifiers

PMID: 35089071
DOI: 10.1089/gtmb.2021.0231

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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