Evidence for GAL3ST4 mutation as the potential cause of pectus excavatum
Dear Editor,Pectus excavatum(PE)is the most common congenital deformity of chest wall that occurs in approximately 1 in every 400 births[1].PE is characterized by the abnormal development of sternum and costal cartilage,which reduces the thoracic volume,restricts the pulmonary movement and leads to cardiac compression[1].Without timely medical interventions,PE may become progressively worse during the adolescent growth spurt [1,2].The etiology of PE remains largely undefined,but accumulating clinical evidence supports that PE is a genetic disorder that is either inherited dominantly or recessively as ～40％ of the patients have affected family members with similar congenital deformities[3].However,few pathogenic genes have been identified for PE yet[2].Thus,systematic analysis of the genetic and molecular mechanisms underlying PE is highly warranted.
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We would like to thank all the family members for their participation in the study.This study was mainly supported by grants from Shenzhen-Hongkong Innovative Projects;Shenzhen Science and Technology Project201001013;the Promotion Program for Shenzhen Key Laboratory,Shenzhen,ChinaCXB200903090055A and CXB201005250016A to ZC;the National Natural Science Foundation of China81101584;Shenzhen engineering lab of tumor clinical immune gene therapy and Shenzhen engineering lab of tumor genomic clinical application
2013-03-15（万方平台首次上网日期，不代表论文的发表时间）
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1712-1715
