Aarskog-Scott syndrome

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Yang, C. Aarskog-Scott syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4360 (accessed on 25 September 2026).

Yang C. Aarskog-Scott syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4360. Accessed September 25, 2026.

Yang, Catherine. "Aarskog-Scott syndrome" Encyclopedia, https://encyclopedia.pub/entry/4360 (accessed September 25, 2026).

Yang, C. (2020, December 23). Aarskog-Scott syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4360

Yang, Catherine. "Aarskog-Scott syndrome." Encyclopedia. Web. 23 December, 2020.

Aarskog-Scott syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/aarskog-scott-syndrome

Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome.

genetic conditions

References

Daubon T, Buccione R, Génot E. The Aarskog-Scott syndrome protein Fgd1regulates podosome formation and extracellular matrix remodeling in transforming growth factor β-stimulated aortic endothelial cells. Mol Cell Biol. 2011Nov;31(22):4430-41. doi: 10.1128/MCB.05474-11.
Estrada L, Caron E, Gorski JL. Fgd1, the Cdc42 guanine nucleotide exchangefactor responsible for faciogenital dysplasia, is localized to the subcorticalactin cytoskeleton and Golgi membrane. Hum Mol Genet. 2001 Mar 1;10(5):485-95.
Gao L, Gorski JL, Chen CS. The Cdc42 guanine nucleotide exchange factor FGD1regulates osteogenesis in human mesenchymal stem cells. Am J Pathol. 2011Mar;178(3):969-74. doi: 10.1016/j.ajpath.2010.11.051.
Hou P, Estrada L, Kinley AW, Parsons JT, Vojtek AB, Gorski JL. Fgd1, the Cdc42GEF responsible for Faciogenital Dysplasia, directly interacts with cortactin andmAbp1 to modulate cell shape. Hum Mol Genet. 2003 Aug 15;12(16):1981-93.
Orrico A, Galli L, Buoni S, Hayek G, Luchetti A, Lorenzini S, Zappella M,Pomponi MG, Sorrentino V. Attention-deficit/hyperactivity disorder (ADHD) andvariable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 genemutation (R408Q). Am J Med Genet A. 2005 May 15;135(1):99-102.
Orrico A, Galli L, Cavaliere ML, Garavelli L, Fryns JP, Crushell E, RinaldiMM, Medeira A, Sorrentino V. Phenotypic and molecular characterisation of theAarskog-Scott syndrome: a survey of the clinical variability in light of FGD1mutation analysis in 46 patients. Eur J Hum Genet. 2004 Jan;12(1):16-23.
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. Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. Am J Med Genet A. 2010Feb;152A(2):313-8. doi: 10.1002/ajmg.a.33199.
Oshima T, Fujino T, Ando K, Hayakawa M. Role of FGD1, a Cdc42 guaninenucleotide exchange factor, in epidermal growth factor-stimulated c-JunNH2-terminal kinase activation and cell migration. Biol Pharm Bull.2011;34(1):54-60.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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