title: Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.
abstract: Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene. We have analyzed an intragenic restriction fragment length polymorphism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a series of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of the 6 patients without the deletion did not confirm the diagnosis of WS. These results support the genetic homogeneity of WS, and the high accuracy of ELN molecular analysis, which can be confidenty used for providing genetic counselling to WS families.
authors.affiliation: Cattedra di Genetica Umana, Università Tor Vergata, Roma, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Mari
authors.forename: F
authors.initials: F
authors.lastname: Amati
authors.forename: R
authors.initials: R
authors.lastname: Mingarelli
authors.forename: A
authors.initials: A
authors.lastname: Giannotti
authors.forename: G
authors.initials: G
authors.lastname: Sebastio
authors.forename: V
authors.initials: V
authors.lastname: Colloridi
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D004247:DNA / Q000032:analysis; D004549:Elastin / Q000235:genetics*; D006801:Humans; D007223:Infant; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D004247:DNA; D004549:Elastin