[A novel mutation in the SEDL gene leading to X-linked spondyloepiphyseal dysplasia tarda in a large Chinese pedigree].
OBJECTIVE
To identify the genetic defect in a four-generation pedigree with X-linked recessive spondyloepiphyseal dysplasia tarda (SEDT) from Southwest China.


METHODS
Linkage analysis with one panel of fluorescently labeled microsatellite markers on chromosome X and mutation screening of SEDL gene by direct sequencing were performed.


RESULTS
Linkage 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).


CONCLUSIONS
A novel missense mutation (H80R) was identified for SEDL gene in the large Chinese SEDT pedigree.
Lin
Ying
Y
Sichuan Provincial Key Laboratory for Human Disease Gene, Sichuan Academy of Medical Science & Sichuan Provincial Peoples' Hospital, Chengdu, Sichuan, 610072 P. R. China.
Rao
Shao-qin
SQ
Yang
Yang
Y
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D020125:Mutation, Missense / Q000235:genetics; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors