RGD Reference Report - Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. - Rat Genome Database

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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.
RGD ID: 11554029
Pubmed: PMID:20082460   (View Abstract at PubMed)
DOI: DOI:10.1002/ajmg.a.33199   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
X-linked Aarskog syndrome  IAGP 11554029DNA:mutations:multiple (human)RGD 
X-linked Aarskog syndrome  ISOFGD1 (Homo sapiens)11554029; 11554029DNA:mutations:multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Fgd1  (FYVE, RhoGEF and PH domain containing 1)

Genes (Mus musculus)
Fgd1  (FYVE, RhoGEF and PH domain containing 1)

Genes (Homo sapiens)
FGD1  (FYVE, RhoGEF and PH domain containing 1)


Additional Information