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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

(2011) NEUROLOGY. 76(11). p.988-992
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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.
Keywords
NEURONAL MIGRATION, SPECTRUM, PHENOTYPE

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MLA
Jansen, AC, Ann Oostra, B Desprechins, et al. “TUBA1A Mutations: From Isolated Lissencephaly to Familial Polymicrogyria.” NEUROLOGY 76.11 (2011): 988–992. Print.
APA
Jansen, AC, Oostra, A., Desprechins, B., De Vlaeminck, Y., VERHELST, H., Regal, L., Verloo, P., et al. (2011). TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. NEUROLOGY, 76(11), 988–992.
Chicago author-date
Jansen, AC, Ann Oostra, B Desprechins, Y De Vlaeminck, HELENE VERHELST, L Regal, Patrick Verloo, et al. 2011. “TUBA1A Mutations: From Isolated Lissencephaly to Familial Polymicrogyria.” Neurology 76 (11): 988–992.
Chicago author-date (all authors)
Jansen, AC, Ann Oostra, B Desprechins, Y De Vlaeminck, HELENE VERHELST, L Regal, Patrick Verloo, N Bockaert, K Keymolen, S Seneca, L De Meirleir, and W Lissens. 2011. “TUBA1A Mutations: From Isolated Lissencephaly to Familial Polymicrogyria.” Neurology 76 (11): 988–992.
Vancouver
1.
Jansen A, Oostra A, Desprechins B, De Vlaeminck Y, VERHELST H, Regal L, et al. TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria. NEUROLOGY. 2011;76(11):988–92.
IEEE
[1]
A. Jansen et al., “TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria,” NEUROLOGY, vol. 76, no. 11, pp. 988–992, 2011.
@article{4087741,
  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.},
  author       = {Jansen, AC and Oostra, Ann and Desprechins, B and De Vlaeminck, Y and Verhelst, Helene and Regal, L and Verloo, Patrick and Bockaert, N and Keymolen, K and Seneca, S and De Meirleir, L and Lissens, W},
  issn         = {0028-3878},
  journal      = {NEUROLOGY},
  keywords     = {NEURONAL MIGRATION,SPECTRUM,PHENOTYPE},
  language     = {eng},
  number       = {11},
  pages        = {988--992},
  title        = {TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria},
  url          = {http://dx.doi.org/10.1212/WNL.0b013e31821043f5},
  volume       = {76},
  year         = {2011},
}

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