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

Research output: Contribution to journalArticle

Abstract

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
Pages (from-to)869-874
Number of pages6
JournalEuropean Journal of Human Genetics
Volume8
Issue number11
DOIs
Publication statusPublished - 2000

Keywords

  • Aarskog syndrome
  • FGD1
  • FGDY
  • Mutation

ASJC Scopus subject areas

  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome'. Together they form a unique fingerprint.

  • Cite this

    Schwartz, C. E., Gillessen-Kaesbach, G., May, M., Cappa, M., Gorski, J., Steindl, K., & Neri, G. (2000). Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome. European Journal of Human Genetics, 8(11), 869-874. https://doi.org/10.1038/sj.ejhg.5200553