TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

A C Jansen, A Oostra, B Desprechins, Y De Vlaeminck, H Verhelst, L Régal, P Verloo, N Bockaert, Kathelijn Keymolen, S Seneca, L De Meirleir, W Lissens

Onderzoeksoutput: Article

49 Citaten (Scopus)


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.

Originele taal-2English
Pagina's (van-tot)988-92
Aantal pagina's5
Nummer van het tijdschrift11
StatusPublished - 2011


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