TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
- PMID: 21403111
- DOI: 10.1212/WNL.0b013e31821043f5
TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
Abstract
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.
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