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.

Mari, A., Amati, F., Mingarelli, R., Giannotti, A., Sebastio, G., Colloridi, V., et al. (1995). Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. HUMAN GENETICS, 96(4), 444-448.

Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome

AMATI, FRANCESCA;NOVELLI, GIUSEPPE;
1995-01-01

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.
Pubblicato
Rilevanza internazionale
Articolo
Sì, ma tipo non specificato
Settore MED/03 - Genetica Medica
English
Con Impact Factor ISI
elastin; adolescent; adult; article; child; dna probe; gene deletion; gene dosage; genetic counseling; human; human cell; infant; major clinical study; nonhuman; priority journal; restriction fragment length polymorphism; williams beuren syndrome; Adolescent; Adult; Base Sequence; Child; Child, Preschool; Chromosome Mapping; DNA; Elastin; Human; Infant; Molecular Sequence Data; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Support, Non-U.S. Gov't; Williams Syndrome
Mari, A., Amati, F., Mingarelli, R., Giannotti, A., Sebastio, G., Colloridi, V., et al. (1995). Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome. HUMAN GENETICS, 96(4), 444-448.
Mari, A; Amati, F; Mingarelli, R; Giannotti, A; Sebastio, G; Colloridi, V; Novelli, G; Dallapiccola, B
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/49666
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