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Mutations in the FGD1gene have been shown to cause Aarskog–Scott syndrome AAS, or faciodigitogenital dysplasia OMIM305400, an Xlinked 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 FGD1gene 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 inframe deletion c.20202022delGAG and the first reported splice site mutation c.19353A>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 wellestablished phenotypic features of AAS, other clinical features are also reported and discussed. © 2010 WileyLiss, Inc.

We describe three patients with type A Niemann-Pick disease (NPD-A). NPD-A is an autosomal recessive neuronal storage disease classified among the sphingolipidoses, characterized by accumulation of sphingomyelin in various tissues and in the brain. Magnetic Resonance imaging (MRI) of our three patients showed a marked delay of myelination with frontal atrophy. Few descriptions of this MRI pattern of delayed myelination have been published to date.