title: [Molecular and clinical characteristics of a family with Alagille syndrome].
abstract: OBJECTIVE
  The Alagille syndrome (AS) is characterized by biliary ductopenia and abnormalities of heart, eyes, face, bones, kidneys and brain with a dominant inheritability. Mutations of Jagged 1 gene are observed in individuals with the full syndrome and/or relatives with little or no phenotypic features. Prognosis of patients depends on the hepatic and cardiovascular involvement.
  
  
  METHODS
  We present the cases of a woman and her 2 male nephews with AS. We performed a molecular study of the Jagged 1 gene in family members with and without the syndrome.
  
  
  RESULTS
  The molecular study detected mutations in the position 2785+2 of TAAG (intron 19) of the Jagged 1 gene in 3 relatives with the full syndrome and in 2 other members with a partial syndrome. Other relatives, without mutation, have some of the phenotypic features of it.
  
  
  CONCLUSIONS
  We comment on the clinical forms of AS in this family and the detected mutation. Molecular diagnosis allows to make a genetic counsel.
authors.affiliation: Servicio de Aparato Digestivo, Hospital Donostia, San Sebastián, Guipúzcoa, Spain. acosme@chdo.osakidetza.net
authors.forename: Angel
authors.initials: A
authors.lastname: Cosme
authors.forename: Ana María
authors.initials: AM
authors.lastname: Cobo
authors.forename: Michèle
authors.initials: M
authors.lastname: Meunier-Rotival
authors.forename: Michelle
authors.initials: M
authors.lastname: Hadchouel
authors.forename: Paloma
authors.initials: P
authors.lastname: Jara
authors.forename: Evelia
authors.initials: E
authors.lastname: Ojeda
authors.forename: Luis
authors.initials: L
authors.lastname: Bujanda
authors.forename: Javier
authors.initials: J
authors.lastname: Orbegozo
mesh_terms: D000328:Adult; D016738:Alagille Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype