Kniest dysplasia due to mutation of COL2A1 gene.
- Author:
Moling WU
1
;
Li LIU
;
Zhizi ZHOU
;
Huiying SHENG
;
Xi YIN
;
Xiuzhen LI
;
Jing CHENG
;
Yonglan HUANG
;
Yanna CAI
;
Cuiling LI
;
Liping FAN
;
Hongsheng LIU
Author Information
- Publication Type:Journal Article
- MeSH: Base Sequence; Child, Preschool; China; Cleft Palate; genetics; Collagen Diseases; genetics; Collagen Type II; genetics; Dwarfism; genetics; Exons; Face; abnormalities; Humans; Hyaline Membrane Disease; genetics; Male; Molecular Sequence Data; Mutation, Missense; Open Reading Frames; Osteochondrodysplasias; genetics; RNA Splicing
- From: Chinese Journal of Medical Genetics 2015;32(3):323-326
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.
METHODSThe 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.
RESULTSA missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.
CONCLUSIONThe probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.
