A novel mutation in the COL2A1 gene in a Chinese family with Spondyloepiphyseal dysplasia congenita.
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies. SEDC is caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We screened COL2A1 gene mutations in four affected individuals from a Chinese family with SEDC. A novel missense mutation c.3257G>T (p.G1086V), which located in the triple-helical domain, was identified in the SEDC patients. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations in the COL2A1 gene and clinical findings of SEDC.
Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Gaotanyan street, Shapingba District, Chongqing 400038, P.R. China; Undergraduate Student Brigade, Third Military Medical University, Chongqing 400038, P.R. China.
Shiyin
S
Li
Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Gaotanyan street, Shapingba District, Chongqing 400038, P.R. China; Undergraduate Student Brigade, Third Military Medical University, Chongqing 400038, P.R. China.
Hao
H
Zhou
Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Gaotanyan street, Shapingba District, Chongqing 400038, P.R. China; Undergraduate Student Brigade, Third Military Medical University, Chongqing 400038, P.R. China.
Haitao
H
Qin
Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Gaotanyan street, Shapingba District, Chongqing 400038, P.R. China. Electronic address: guohong02@gmail.com.
Hong
H
Guo
Department of Medical Genetics, College of Basic Medical Science, Third Military Medical University, Gaotanyan street, Shapingba District, Chongqing 400038, P.R. China. Electronic address: geneticsby@gmail.com.
Yun
Y
Bai
D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000235:genetics; D010375:Pedigree
C499177:COL2A1 protein, human; D024043:Collagen Type II
COL2A1; Family; Mutation; Spondyloepiphyseal dysplasia congenita (SEDC)