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TUBA1A mutations

Journal Contribution - Journal Article

Subtitle:from isolated lissencephaly to familial polymicrogyria
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A. Results: Two novel heterozygous missense mutations in TUBA1A were identified: c. 629A > G (p. Tyr210Cys) occurring de novo in a boy with lissencephaly, and c. 13A > C (p.Ile5Leu) affecting 2 sisters with polymicrogyria whose mother presented somatic mosaicism for the mutation. Conclusions: Mutations in TUBA1A have been described in patients with lissencephaly and pachygyria. We report a mutation in TUBA1A as a cause of polymicrogyria. So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases. This article describes familial recurrence of TUBA1A mutations due to somatic mosaicism in a parent. These findings broaden the phenotypic spectrum associated with TUBA1A mutations and have implications for genetic counseling. Neurology (R) 2011;76:988-992
Journal: Neurology
ISSN: 0028-3878
Volume: 76
Pages: 988 - 992
Publication year:2011
Keywords:A1 Journal article
Accessibility:Closed