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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria.
Jansen, A C; Oostra, A; Desprechins, B; De Vlaeminck, Y; Verhelst, H; Régal, L; Verloo, P; Bockaert, N; Keymolen, K; Seneca, S; De Meirleir, L; Lissens, W.
Afiliação
  • Jansen AC; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. anna.jansen@uzbrussel.be
Neurology ; 76(11): 988-92, 2011 Mar 15.
Article em En | MEDLINE | ID: mdl-21403111
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Córtex Cerebral / Malformações do Desenvolvimento Cortical Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Neurology Ano de publicação: 2011 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Tubulina (Proteína) / Córtex Cerebral / Malformações do Desenvolvimento Cortical Tipo de estudo: Prognostic_studies Limite: Adult / Child / Female / Humans / Infant / Male Idioma: En Revista: Neurology Ano de publicação: 2011 Tipo de documento: Article