Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

Details

Serval ID
serval:BIB_D4872E610ACE
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Journal
American Journal of Medical Genetics
Author(s)
Orrico A., Galli L., Faivre L., Clayton-Smith J., Azzarello-Burri S.M., Hertz J.M., Jacquemont S., Taurisano R., Arroyo Carrera I., Tarantino E., Devriendt K., Melis D., Thelle T., Meinhardt U., Sorrentino V.
ISSN
1552-4833[electronic], 1552-4825[linking]
Publication state
Published
Issued date
2010
Volume
152 A
Number
2
Pages
313-318
Language
english
Abstract
Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three independent families. We did not find any evidence for phenotype-genotype correlations between type and position of mutations and clinical features. In addition to the well-established phenotypic features of AAS, other clinical features are also reported and discussed.
Keywords
Aarskog-Scott Syndrome, FGD1 Gene, Clinical Features, Mutations, Digital-Genital Syndrome, Faciogenital-Dysplasia, Missense Mutation, Family, Expression, Domain
Pubmed
Web of science
Create date
02/03/2010 14:21
Last modification date
20/08/2019 15:54
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