Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

C. E. Schwartz*, G. Gillessen-Kaesbach, M. May, M. Cappa, J. Gorski, K. Steindl, G. Neri

*Corresponding author for this work
46 Citations (Scopus)


The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational 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 as the gene responsible for the Aarskog syndrome.

Original languageEnglish
JournalEuropean Journal of Human Genetics
Issue number11
Pages (from-to)869-874
Number of pages6
Publication statusPublished - 2000

Research Areas and Centers

  • Research Area: Medical Genetics


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