Back to Search Start Over

Mutation in the FGFR2 gene in a Taiwanese patient with Beare-Stevenson cutis gyrata syndrome

Authors :
R. B. Lai
C. B. Huang
Jer-Yuarn Wu
Michael Hsiao
Tzu Jou Wang
Fuu Jen Tsai
Source :
Clinical Genetics. 61:218-221
Publication Year :
2002
Publisher :
Wiley, 2002.

Abstract

The present authors report the first case of Beare-Stevenson syndrome in Taiwan. The patient shares several clinical characteristics of Beare-Stevenson syndrome such as cutis gyrata, cloverleaf skull, prominent eyes, cleft palate, ear defects and a protruding umbilical stump. Molecular genetic analysis of the FGFR2 gene in this patient's DNA revealed a missense A --> G mutation on nucleotide 1303 of the FGFR2 cDNA. This mutation leads to a Tyr --> Cys substitution at residue 375 located at the N-terminal end of the transmembrane domain of FGFR2. The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome.

Details

ISSN :
00099163
Volume :
61
Database :
OpenAIRE
Journal :
Clinical Genetics
Accession number :
edsair.doi...........0ecca089761f8642610a983b8b8c8023
Full Text :
https://doi.org/10.1034/j.1399-0004.2002.610309.x