Aarskog syndrome


What gene change causes Aarskog syndrome?

Harmful changes (mutations) in the FGD1 gene are known to cause Aarskog syndrome. FGD1 stands for faciogenital dysplasia 1 gene. This is located on the X chromosome (one of the sex chromosomes). The exact location of the FGD1 gene is chromosome Xp11.21. There may be other genetic causes of Aarskog syndrome that are still unknown.

Show More Content Like This

More Causes Content

Does everyone with Aarskog syndrome have a FGD1 gene mutation?

Does everyone with Aarskog syndrome have a FGD1 gene mutation?

Not everyone with Aarskog syndrome has a FGD1 gene mutation that be identified through genetic testing. FGD1 gene analysis can detect disease mutations in around 20% of individuals with Aarskog syndrome. The cause of Aarskog syndrome in other affected people is unknown.

  • Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns J-P, Crushell E, Rinaldi MM, Medeira A, Sorrentino V. 2003. Phenotypic and molecular characterisation of the Aarskog?Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. European Journal of Human Genetics 12: 16?23. PubMed ID: 14560308
  • 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. 2010. Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of the FGD1 gene. American Journal of Medical Genetics Part A 152A: 313?318. PubMed ID: 20082460
  • Schwartz CE, 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. Eur. J. Hum. Genet. 8: 869?874. PubMed ID: 11093277

We use cookies to ensure that we give you the best experience on our website. By continuing to browse this site, you are agreeing to our use of cookies.

Continue Find out more about our use of cookies and similar technology

This content comes from a hidden element on this page.

The inline option preserves bound JavaScript events and changes, and it puts the content back where it came from when it is closed.

Remember Me