Mutation analysis of FGFR3 gene in a family featuring hereditary dwarfism.
- VernacularTitle:一个遗传性侏儒家系的FGFR3基因突变分析
- Author:
Qiong ZHANG
1
;
Hai-ou JIANG
;
Qing-li QUAN
;
Jun LI
;
Ting HE
;
Xue-shuang HUANG
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; DNA Mutational Analysis; Dwarfism; genetics; Exons; Female; Heterozygote; Humans; Male; Mutation; Receptor, Fibroblast Growth Factor, Type 3; genetics
- From: Chinese Journal of Medical Genetics 2011;28(6):705-707
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the clinical symptoms and potential mutation in FGFR3 gene for a family featuring hereditary dwarfism in order to attain diagnosis and provide prenatal diagnosis.
METHODSFive patients and two unaffected relatives from the family, in addition with 100 healthy controls, were recruited. Genome DNA was extracted. Exons 10 and 13 of the FGFR3 gene were amplified using polymerase chain reaction (PCR). PCR products were sequenced in both directions.
RESULTSAll patients had similar features including short stature, short limbs, lumbar hyperlordosis but normal craniofacial features. A heterozygous mutation G1620T (N540K) was identified in the cDNA from all patients but not in the unaffected relatives and 100 control subjects. A heterozygous G380R mutation was excluded.
CONCLUSIONThe hereditary dwarfism featured by this family has been caused by hypochondroplasia (HCH) due to a N540K mutation in the FGFR3 gene.
