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References
Pasteris NG, Buckler J, Cadle AB, Gorski JL : Genomic organization of the faciogenital dysplasia (FGD1; Aarskog syndrome) gene. Genomics 1997; 43: 390–394.
Orrico A, Galli L, Faivre L et al Aarskog-Scott Syndrome: clinical update and report of nine novel variants of theFGD1 gene. Am J Med Genet A 2010; 152A: 313–318.
Schwartz CE, Gillessen-Kaesbach G, May M et al Two novel variants confirm FDG1 is responsible for the Aarskog syndrome. Eur J Hum Genet 2000; 8: 869–874.
Bedoyan JK, Friez MJ, Dupont B, Ahmad A : First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott Syndrome. Eur J Med Genet 2009; 52: 262–264.
Baldi M, Mura I, De Cassan P et al Sindrome di Aarskog: nuove mutazioni del gene FGD1. XII Congresso SIGU, Abstract book: poster 105, Torino, 2009.
Pilozzi-Edmonds L1, Maher TA, Basran RK et al Fraternal twins with Aarskog-Scott Syndrome due to maternal germline mosaicism. Am J Med Genet A 2011; 155A: 1987–1990.
Verhoeven WM, Egger JI, Hoogeboom AJ : X-linked Aarskog syndrome: report on a novel FGD1 gene variant. Executive dysfunction as part of the behavioural phenotype. Genet Couns 2012; 23: 157–167.
Al-Semari A, Wakil SM, Al-Muhaizea MA et al Novel FGD1 variant underlying Aarskog-Scott Syndrome with myopathy and distal arthropathy. Clin Dysmorphol 2013; 22: 13–17.
Altıncık A, Kaname T, Demir K, Böber E : A novel variant in a mother and a son with Aarskog-Scott Syndrome. J Pediatr Endocrinol Metab 2013; 26: 385–388.
Orrico A, Galli L, Cavaliere ML et al Phenotypic and molecular characterisation of the Aarskog syndrome: a survey of the clinical variability in light of FDG1 variant analysis in 46 patients. Eur J Hum Genet 2004; 12: 16–23.
Ronce N, Maystadt I, Hubert C et al Aarskog-Scott Syndrome: first report of a duplication in the FGD1 gene. Clin Genet 2012; 82: 93–96.
Aten E, Sun Y, Almomani R et al Exome sequencing identifies a branch point variant in Aarskog-Scott Syndrome. Hum Mutat 2013; 34: 430–434.
Lebel RR, May M, Pouls S, Lubs HA, Stevenson RE, Schwartz CE : Non-syndromic X-linked mental retardation associated with a missense variant (P312L) in the FGD1 gene. Clin Genet 2002; 61: 139–145.
Bottani A, Orrico A, Galli L et al Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott Syndrome due to a novel missense variant in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1. Am J Med Genet A 2007; 143A: 2334–2338.
Orrico A, Galli L, Obregón MG, de Castro Perez MF, Falciani M, Sorrentino V : Unusually severe expression of craniofacial features in Aarskog-Scott Síndrome due to a novel truncating variant of the FDG1 gene. Am J Med Genet A 2007; 143: 58–63.
van Bokhoven H, Celli J, Kayserili H et al Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome. Nat Genet 2000; 25: 423–426.
Person AD, Beiraghi S, Sieben CM et al WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 2010; 239: 327–337.
Fryns JP : Aarskog syndrome: the changing phenotype with age. Am J Med Genet 1992; 43: 420–427.
Satoh M, Yokoya S : Anabolic steroid and gonadotropin releasing hormone analog combined treatment increased pubertal height gain and adult height in two children who entered puberty with short stature. J Pediatr Endocrinol Metab 2006; 19: 1125–1131.
Orrico A, Galli L, Buoni S et al Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott Syndrome due to a novel FGD1 gene variant (R408Q). Am J Med Genet A 2005; 135: 99–102.
Kaname T, Yanagi K, Okamoto N, Naritomi K : Neurobehavioral disorders in patients with Aarskog-Scott Syndrome affected by novel FGD1 variants. Am J Med Genet A 2006; 140: 1331–1332.
Shalev SA, Chervinski E, Weiner E, Mazor G, Friez MJ, Schwartz CE : Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. Am J Med Genet A 2006; 140: 162–165.
Acknowledgements
This work was supported by EuroGentest, an EU-FP6-supported NoE, contract number 512148 (EuroGentest Unit 3: ‘Clinical genetics, community genetics and public health’, Workpackage 3.2). JCS is supported by the Manchester Centre for Genomic Medicine within the Central Manchester NHS Foundation Trust.
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Orrico, A., Galli, L., Clayton-Smith, J. et al. Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015. Eur J Hum Genet 23, 558 (2015). https://doi.org/10.1038/ejhg.2014.178
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DOI: https://doi.org/10.1038/ejhg.2014.178
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