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Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits.

Genes - 25 Feb 2022

von Wrede Randi, Schidlowski Martin, Huppertz Hans-Jürgen, Rüber Theodor, Ivo Anja, Baumgartner Tobias, Hallmann Kerstin, Zsurka Gábor, Helmstaedter Christoph, Surges Rainer, Kunz Wolfram S

Abstract excerpt

Here, we report a consanguineous family harboring a novel homozygous frame-shift mutation in ASPM leading to a truncation of the ASPM protein after amino acid position 1830. The phenotype of the patients was associated with microcephaly, epilepsy, and behavioral and cognitive deficits. Despite the obvious genetic similarity, the affected patients show a considerable phenotypic heterogeneity regarding the degree...

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PMID: 35327983
DOI: 10.3390/genes13030429
PMCID: PMC8956106

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