Aarskog syndrome


What does it mean to have inherited a variant in the gene for Aarskog syndrome?

When a person inherits a change or variant of uncertain significance (VUS or VOUS) in the FGD1 gene for Aarskog syndrome, it means they have a change in the gene but it is currently not known if this change actually causes Aarskog syndrome. Sometimes the interpretation of variants change as more people are tested and more data is received by the laboratory.


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

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