GENE LOCATION AND MUTATION DETECTION IN A LARGE CHINESE FAMILY WITH SEDC AND MOLECULAR PRENATAL DIAGNOSIS OF SEDC
Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses, and flattened vertebral bodies. We investigated eight affected individuals over four generations in a Chinese family with Distinctive SEDC. Haplotyping mapped the SEDC locus on 12q13. DNA sequencing revealed a 1510 G→A transition in exon 23 of type II collagen (COL2A1) gene. Molecular prenatal diagnosis was performed to two couples in this family at risk for SEDC. And both pregnant women underwent a serial number of sonograms to confirm the molecular diagnosis. This is the first familial report of SEDC relating to G504S mutation of COL2A1 gene. Considering the poor genotype/phenotype correlation in SEDC, the combination of ultrasound as well as molecular genetic approach is helpful for establishing an accurate and early prenatal diagnosis and subsequently for appropriate genetic counseling, prognosis, and perinatal management.
COL2A1 gene spondyloepiphyseal dysplasia conginita genotype-phenotype correlation molecular prenatal diagnosis
Xin-Yi Xia Ying-Xia Cui Bing Yao Bin Yang Lian-Jun Pan Yao Feng Yi-Chao Shi Yu-Feng Huang
Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing, China, 210002
国际会议
The 5th International Forum on Post-genome Technologies(5IFPT)(第五届国际后基因组生命科学技术学术论坛)
苏州
英文
2007-09-10（万方平台首次上网日期，不代表论文的发表时间）