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

Authors: Orrico, A  Galli, L  Faivre, L  Clayton-Smith, J  Azzarello-Burri, SM  Hertz, JM  Jacquemont, S  Taurisano, R  Arroyo Carrera, I  Tarantino, E  Devriendt, K  Melis, D  Thelle, T  Meinhardt, U  Sorrentino, V 
Citation: Orrico A, etal., Am J Med Genet A. 2010 Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199.
Pubmed: (View Article at PubMed) PMID:20082460
DOI: Full-text: DOI:10.1002/ajmg.a.33199

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.

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CRRD Object Information
CRRD ID: 11554029
Created: 2016-10-19
Species: All species
Last Modified: 2016-10-19
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.