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DISCO2018-1
Status In submission
Title TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis
Organism Homo sapiens
Summary To characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model.Patients with congenital scoliosis (CS) from China, Japan, and the USA were studied. Clinically measurable endophenotypes were compared according to the TBX6 genotypes. A clinical diagnostic algorithm (TACScore) was developed to assist in clinical recognition of TBX6-associated CS (TACS). In conclusion, TACS is a clinically distinguishable entity with consistent clinically measurable endophenotypes. The type and distribution of vertebral column abnormalities in TBX6/Tbx6 compound inheritance implicate subtle perturbations in gene dosage as a cause of spine developmental birth defects responsible for about 10% of CS.
Contributor(s) Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study
Citation J Liu, et al. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. In submission.
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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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