A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree.
- Author:
Ying LIN
1
;
Shao-qin RAO
;
Yang YANG
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Asian Continental Ancestry Group; genetics; DNA Mutational Analysis; Female; Genetic Diseases, X-Linked; genetics; pathology; Genetic Linkage; genetics; Humans; Male; Membrane Transport Proteins; genetics; Mutation; Mutation, Missense; genetics; Osteochondrodysplasias; genetics; pathology; Pedigree; Transcription Factors; genetics
- From: Chinese Journal of Medical Genetics 2008;25(2):150-153
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China.
METHODSLinkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed.
RESULTSLinkage between SEDT and Xp22.2-Xp23.1 was established with maximum LOD score of 3.82 (theta = 0) between DXS987 and DXS8051. Upon sequence analysis, a point mutation within exon 4 of the SEDL gene (c.239A to G) was found which resulted in substitution of histidine with arginine at codon 80 (His80Arg).
CONCLUSIONA novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree.
