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Article

Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.

Journal of genetics - 1 Jun 2017

Khan Muzammil Ahmad, Windpassinger Christian, Ali Muhammad Zeeshan, Zubair Muhammad, Gul Hadia, Abbas Safdar, Khan Saadullah, Badar Muhammad, Mohammad Ramzi M, Nawaz Zafar

Abstract excerpt

Autosomal recessive primary microcephaly is a rare genetic disorder that is characterized by reduced head circumference and a varying degree of intellectual disability. Genetic studies on consanguineous families with primary microcephaly have identified 15 (MCPH) causative genes that include MCPH1, WDR62, CDK5RAP2, CASC5, ASPM, CENPJ, STIL, CEP135, CEP152, ZNF335, PHC1, CDK6, CENPE, SASS6 MFSD2A ANKLE2 and CIT...

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Source

Identifiers

PMID: 28674240
DOI: 10.1007/s12041-017-0759-x

Genes

ASPM
CDK6
CENPE
CIT
MCPH1
PHC1
SASS6
STIL

Variants

rs199422195

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Molecular genetic analysis of consanguineous families with primary microcephaly identified pathogenic variants in the ASPM gene.PMID 28674240Read ↗

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