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The genetic model of rare variant together with common hypomorphic allele of TBX6 involving in the pathogenesis of congenital scoliosis

2018-01-08 10:44:33

Generally, the molecular mechanism of human mendelian disorders associated with heterozygous gene deletions or null mutations is haploinsufficiency, in which half the gene dosage is not sufficient for normal function. In contrast, the effect of diminished TBX6 dosage in congenital scoliosis is complex. We found that an additional TBX6 hypomorphic allele is required to cause a further decrement in gene-expression dosage beyond haploinsufficiency for penetrance of the congenital scoliosis phenotype.

First:Dr. Shiro Ikegawa Visited Peking Union Medical College Hospital

Last:Dr. Nan Wu was invited to give a lecture at Mount Sinai Hospital, Toronto, Canada

Department of orthopedic surgery, Peking Union Medical College Hospital (PUMCH), Peking Union Medical College (PUMC) & Chinese Academy of Medical Sciences (CAMS)

Beijing Key Laboratory for Genetic Research of Skeletal Deformity

Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences

Tel: +86-10-69152809

E-mail: dr.wunan@pumch.cn

Address: Department of orthopedic surgery, Peking Union Medical College Hospital, No.1 Shuaifuyuan, Dongcheng District, Beijing 100730, China

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