Clinical features and FGFR3 mutations of children with achondroplasia.
10.7499/j.issn.1008-8830.2111039
- Author:
Hui-Qin ZHANG
1
;
Dong-Ying TAO
1
;
Jing-Jing ZHANG
1
;
Huan-Hong NIU
1
;
Jian-Feng LUO
1
;
Sheng-Quan CHENG
1
Author Information
1. Department of Pediatrics, First Affiliated Hospital of Air Force Military Medical University, Xi'an 710032, China.
- Publication Type:Journal Article
- Keywords:
Achondroplasia;
Child;
Fibroblast growth factor receptor 3 gene;
Gene mutation
- MeSH:
Achondroplasia/genetics*;
Child;
Humans;
Mutation;
Osteochondrodysplasias/genetics*;
Receptor, Fibroblast Growth Factor, Type 3/genetics*;
Retrospective Studies
- From:
Chinese Journal of Contemporary Pediatrics
2022;24(4):405-410
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To study the clinical features and fibroblast growth factor receptor 3 (FGFR3) gene mutations of children with achondroplasia (ACH) through an analysis of 17 cases.
METHODS:A retrospective analysis was performed on the clinical data and FGFR3 gene detection results of 17 children with ACH who were diagnosed from January 2009 to October 2021.
RESULTS:Of the 17 children with ACH, common clinical manifestations included disproportionate short stature (100%, 17/17), macrocephaly (100%, 17/17), trident hand (82%, 14/17), and genu varum (88%, 15/17). The common imaging findings were rhizomelic shortening of the long bones (100%, 17/17) and narrowing of the lumbar intervertebral space (88%, 15/17). Major complications included skeletal dysplasia (100%, 17/17), middle ear dysfunction (82%, 14/17), motor/language developmental delay (88%, 15/17), chronic pain (59%, 10/17), sleep apnea (53%, 9/17), obesity (41%, 7/17), foramen magnum stenosis (35%, 6/17), and hydrocephalus (24%, 4/17). All 17 children (100%) had FGFR3 mutations, among whom 13 had c.1138G>A hotspot mutations of the FGFR3 gene, 2 had c.1138G>C mutations of the FGFR3 gene, and 2 had unreported mutations, with c.1252C>T mutations of the FGFR3 gene in one child and c.445+2_445+5delTAGG mutations of the FGFR3 gene in the other child.
CONCLUSIONS:This study identifies the unreported mutation sites of the FGFR3 gene, which extends the gene mutation spectrum of ACH. ACH is a progressive disease requiring lifelong management through multidisciplinary collaboration.
