Aarskog syndrome
Causes
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.
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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.
References
- 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
