Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is a n X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene m apped to the Xp11.21 region. To date, only one point mutation has been repo rted in an affected family consisting of the insertion of an additional gua nine residue at nucleotide 2122 of exon 7, which causes premature translati onal termination. We now report the finding of two novel FGD1 mutations;, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 a s the gene responsible for the Aarskog syndrome.