FGFR2 gene mutation in a Chinese patient with Apert syndrome.

Li Dai; Na-na LI; Yu-mei Yuan; Yong Liu; Jun Zhu

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FGFR2 gene mutation in a Chinese patient with Apert syndrome.

Author: Li DAI ¹ ; Na-na LI ; Yu-mei YUAN ; Yong LIU ; Jun ZHU
Author Information

1. National Center for Birth Defect Monitoring, Ministerial Key Laboratory of Women and Children's Diseases and Birth Defects, Laboratory of Molecular Epidemiology of Birth Defects, West China Institutes for Women and Children's Health, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China. daili_diamondlaser@126.com
Publication Type:Case Reports
MeSH: Acrocephalosyndactylia; genetics; pathology; physiopathology; Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; DNA Mutational Analysis; Female; Humans; Infant, Newborn; Male; Mutation; genetics; Pedigree; Receptor, Fibroblast Growth Factor, Type 2; genetics
From: Chinese Journal of Medical Genetics 2010;27(6):682-684
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo determine the disease-causing mutation in a Chinese patient with Apert syndrome (AS).
METHODSGenomic DNA was extracted from peripheral blood samples of the AS patient and his parents. Polymerase chain reaction (PCR) was used to amplify the exons 7 and 9 of fibroblast growth factor receptor 2 (FGFR2) gene. Then PCR products were sequenced bi-directionally.
RESULTSA heterozygous 934C to G transversion in exon 7 of the FGFR2 gene was detected in the patient, which resulted in the substitution of tryptophan residue for serine at position 252 of FGFR2 protein (S252W). This mutation has been reported in AS patients previously.
CONCLUSIONThis Chinese AS results from the 934 C to G mutation in exon 7 of FGFR2 gene.