FGFR3 gene mutation analysis of achondroplasia and hypochondroplasia families

VernacularTitle:软骨发育不全与软骨发育低下家系的FGFR3基因突变分析
Author: Lindi LI ; Dan LAN ; Hu YANG ; Tiantian XU ; Qiongyan LI ; Zongyan GAO
Publication Type:Journal Article
Keywords: achondroplasia; hypochondroplasia; fibroblast growth factor receptor 3 Gene; Genetic diagnosis
From: Journal of Clinical Pediatrics 2014;(4):384-387
CountryChina
Language:Chinese
Abstract: Objective To screen the sequence of fibroblast growth factor receptor 3 (FGFR3) genes in children with dys-chondroplasia and their family members for searching the mutations. Methods The sequence of exon 10 and exon 13 in muta-tion hot spot region of FGFR3 gene in seven families was analyzed using polymerase chain reaction (PCR) and DNA sequenc-ing technology. Results The c.1138G>A missense mutation in exon 10 was found in 4 probands who were diagnosed as achon-droplasia (ACH), while this mutation was absent in their parents. The c.1620C>A missense mutation in exon 13 was found in one girl and her mother who both were diagnosed as hypochondroplasia (HCH) with mild symptoms. Neither mutation men-tioned above was found in the other two probands. Conclusions Through detecting the mutation in exon 10, exon 13 of FGFR3 gene, most patients of ACH or HCH can be finally diagnosed. However, it is necessary to perform the mutation screening on the other zones of FGFR3 gene and on other related genes for a few cases.