On January 8, 2015, the New England Journal of Medicine, a world top medical journal, published in the form of original article a research result named "TBX6 Null Variants and a Common Hypomorphic Allele in Congenital Scoliosis". The research, led by PUMCH and conducted in cooperation with several institutions at home and abroad including Fudan University, Capital Institute of Pediatrics, Beijing and Baylor College of Medicine, for the first time specified the pathogenic gene of congenital scoliosis (CS), thus providing theoretical basis for its early-stage diagnosis and genetic consultation.
CS is a kind of three-dimensional malformation caused by the abnormal development of the spine at the fetus stage. It has an estimated prevalence of approximately 1 in 1000 live births, being one of the major causes of disability in youngsters. It features fast advancement, serious deformity, multiple complications and an obvious genetic tendency.
The researchers, adopting an advanced method of comparative genomic hybridization (CGH), were the first in the international community to analyse the genome-wide copy-number variants of CS patients, and innovatively proposed the concept of TBX6-associated scoliosis. Researchers revealed that TBX6, up to now, is the most important pathogenic gene of CS, and explained its complex genetic mechanism. This discovery provided a new path for revealing the cause of other complicated diseases and represented an important breakthrough in the international osteoarticular disease field. The research, starting from actual clinical needs, revealed the most important causation of CS and provided theoretical basis for its early-stage diagnosis and genetic consultation, marking a successful practice in translational medicine.
The research appeared in the front-page of the website of the New England Journal of Medicine.
A simple illustration of the complex genetic mechanism of TBX6 causing CS, that is, the simultaneous appearance of null variants and a hypomorphic allele significantly increases the risk of CS.
An X-ray of a patient of TBX6-associated scoliosis indicates semi-vertebral deformity at T12, accompanied by the absence of the 12th rib in the right.