[Molecular and clinical characteristics of a family with Alagille syndrome].
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.
Cosme
Angel
A
Servicio de Aparato Digestivo, Hospital Donostia, San Sebastián, Guipúzcoa, Spain. acosme@chdo.osakidetza.net
Cobo
Ana María
AM
Meunier-Rotival
Michèle
M
Hadchouel
Michelle
M
Jara
Paloma
P
Ojeda
Evelia
E
Bujanda
Luis
L
Orbegozo
Javier
J
D000328:Adult; D016738:Alagille Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype