title: 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.
authors.affiliation: Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium. anna.jansen@uzbrussel.be
authors.forename: A C
authors.initials: AC
authors.lastname: Jansen
authors.forename: A
authors.initials: A
authors.lastname: Oostra
authors.forename: B
authors.initials: B
authors.lastname: Desprechins
authors.forename: Y
authors.initials: Y
authors.lastname: De Vlaeminck
authors.forename: H
authors.initials: H
authors.lastname: Verhelst
authors.forename: L
authors.initials: L
authors.lastname: Régal
authors.forename: P
authors.initials: P
authors.lastname: Verloo
authors.forename: N
authors.initials: N
authors.lastname: Bockaert
authors.forename: K
authors.initials: K
authors.lastname: Keymolen
authors.forename: S
authors.initials: S
authors.lastname: Seneca
authors.forename: L
authors.initials: L
authors.lastname: De Meirleir
authors.forename: W
authors.initials: W
authors.lastname: Lissens
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D014404:Tubulin / Q000235:genetics*
chemical_list: C533522:TUBA1A protein, human; D014404:Tubulin