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Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome.

Abstract：

:Beare-Stevenson cutis gyrata syndrome (MIM 123790) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities and early death. Many of these features are characteristic of some of the autosomal dominant craniosynostotic syndromes. Mutations in Crouzon, Jackson-Weiss, Pfeiffer and Apert syndromes have been reported in the FGFR2 extracellular domain. In Crouzon syndrome patients with acanthosis nigricans, a recurrent mutation occurs in the transmembrane domain of FGFR3. We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. In three sporatic cases, a novel missense mutation was found causing an amino acid to be replaced by a cysteine; two had the identical Ty375Cys mutation in the transmembrane domain and one had a Ser372Cys mutation in the carboxyl-terminal end of the linker region between the immunoglobulin III-like (Iglll) and transmembrane domains. In two patients, neither of these mutations were found suggesting further genetic heterogeneity.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Przylepa KA,Paznekas W,Zhang M,Golabi M,Bias W,Bamshad MJ,Carey JC,Hall BD,Stevenson R,Orlow S,Cohen MM Jr,Jabs EW

doi

10.1038/ng0896-492

subject

Has Abstract

pub_date

1996-08-01 00:00:00

pages

492-4

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

13

pub_type

杂志文章

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