Am J Med Genet A. 2008 Mar 1;146A(5):658-60.

Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation.

Fonseca R, Costa-Lima MA, Cosentino V, Orioli IM.

Source

ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Universidade Federal do Rio de Janeiro, Rio de Janeiro, Brazil.

Abstract

Beare-Stevenson syndrome is characterized by cutis gyrata, acanthosis nigricans, skin furrows, skin tags, craniosynostosis, Crouzonoid-like features in some cases and cloverleaf skull in others, anogenital anomalies, and prominent umbilical stump. Reported causes are an FGFR2 Tyr375Cys mutation in nine cases and an FGFR2 Ser372Cys mutation in one case. Here, we report on a second patient with the FGFR2 Ser372Cys mutation.

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Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. [Nat Genet. 1996]
Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.
Przylepa KA, Paznekas W, Zhang M, Golabi M, Bias W, Bamshad MJ, Carey JC, Hall BD, Stevenson R, Orlow S, et al. Nat Genet. 1996 Aug; 13(4):492-4.
The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene. [J Korean Med Sci. 2007]
The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
Eun SH, Ha KS, Je BK, Lee ES, Choi BM, Lee JH, Eun BL, Yoo KH. J Korean Med Sci. 2007 Apr; 22(2):352-6.
Beare-Stevenson cutis gyrata syndrome. [Am J Med Genet. 1992]
Beare-Stevenson cutis gyrata syndrome.
Hall BD, Cadle RG, Golabi M, Morris CA, Cohen MM Jr. Am J Med Genet. 1992 Sep 1; 44(1):82-9.
Review A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype. [Clin Dysmorphol. 2006]
Review A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
McGaughran J, Sinnott S, Susman R, Buckley MF, Elakis G, Cox T, Roscioli T. Clin Dysmorphol. 2006 Apr; 15(2):89-93.
Review Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2. [Am J Med Genet. 2002]
Review Distinct craniofacial-skeletal-dermatological dysplasia in a patient with W290C mutation in FGFR2.
Shotelersuk V, Ittiwut C, Srivuthana S, Mahatumarat C, Lerdlum S, Wacharasindhu S. Am J Med Genet. 2002 Nov 15; 113(1):4-8.

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Cited by 2 PubMed Central articles

Characterization of pathogenic germline mutations in human protein kinases. [BMC Bioinformatics. 2011]
Characterization of pathogenic germline mutations in human protein kinases.
Izarzugaza JM, Hopcroft LE, Baresic A, Orengo CA, Martin AC, Valencia A. BMC Bioinformatics. 2011; 12 Suppl 4:S1. Epub 2011 Jul 5.
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Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.
Slavotinek A, Crawford H, Golabi M, Tao C, Perry H, Oberoi S, Vargervik K, Friez M. Am J Med Genet A. 2009 Aug; 149A(8):1814-7.

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