title: Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome.
abstract: Crigler-Najjar syndrome type I (CN-I) is a rare and severe autosomal recessive metabolic disease due to a total deficiency of bilirubin uridine diphosphate glucuronosyltransferase located on chromosome 2. We report on a child with CN-I due to a phenylalanine residue deletion inherited only from the father carrying this deletion at the heterozygous state. Cytogenetic analyses showed no deletion of the chromosomal 2q37 region. Microsatellite analysis of the child and his parents was consistent with paternal isodisomy for chromosome 2 in the child. This report demonstrates that uniparental disomy may be at the origin of very rare diseases transmitted as autosomal recessive traits and emphasizes the need for parental DNA analysis in such cases.
authors.affiliation: Service de Biochimie et Hormonologie, Hôpital Antoine Béclère, Clamart, France. francois.petit@abc.ap-hop-paris.fr
authors.forename: François M
authors.initials: FM
authors.lastname: Petit
authors.forename: Vincent
authors.initials: V
authors.lastname: Gajdos
authors.forename: Frédéric
authors.initials: F
authors.lastname: Parisot
authors.forename: Liliane
authors.initials: L
authors.lastname: Capel
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: Alain
authors.initials: A
authors.lastname: Lachaux
authors.forename: Gérard
authors.initials: G
authors.lastname: Tachdjian
authors.forename: Christian
authors.initials: C
authors.lastname: Poüs
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
mesh_terms: D001483:Base Sequence; D001663:Bilirubin / Q000378:metabolism; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D003414:Crigler-Najjar Syndrome / Q000235:genetics*; D004247:DNA / Q000032:analysis; D017809:Fatal Outcome; D005220:Fathers; D014453:Glucuronosyltransferase / Q000172:deficiency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018895:Microsatellite Repeats; D009035:Mothers; D010649:Phenylalanine / Q000032:analysis; D017384:Sequence Deletion; D024182:Uniparental Disomy
chemical_list: D010649:Phenylalanine; D004247:DNA; D014453:Glucuronosyltransferase; D001663:Bilirubin