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Research Team from Xin Hua Hospital Discovered New Visceral Ectopic Candidate Gene

June 08, 2018      Author: Xin Hua Hospital

The pediatric cardiovascular system research team from Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine discovered new visceral ectopic candidate gene, after their long-term effort. The results of research have been published on the latest journal the Genome Medicine (Impact factor 7.071).

The research will offer theoretical foundation and target for the diagnosis and treatment of visceral ectopic syndrome, expecting to improve population quality, reduce birth defects, and enhance children's health.

The research was conducted collectively by the pediatric cardiovascular system research team from Xin Hua Hospital. Postgraduates Liu Chunjie and Cao Ruixue are the first authors, and Professor Sun Kun and Researcher Xu Rang are the corresponding authors.

Heterotaxy (Htx) syndrome comprises a class of congenital disorders resulting from malformations in left-right body patterning. Approximately 90% of patients with heterotaxy have serious congenital heart diseases; as a result, the survival rate and outcomes of Htx patients are not satisfactory. However, the underlying etiology and mechanisms in the majority of Htx cases remain unknown. The aim of this study was to investigate the function of rare copy number variants (CNVs) in the pathogenesis of Htx.

 

Translated by Huang Yiqing   Reviewed by Wang Bingyu