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Mapping And Susceptibility Genes For Nonsyndromic Oral Clefts In Western China

Chengdu, China


Oral clefts represent a major public health burden because of their high prevalence among newborns, the cost of surgical repair, and their continuing medical, psychological, and emotional burden to affected children and their families. While considerable progress has been made in recent years in identifying genes associated with isolated, nonsyndromic forms of oral clefts (including cleft lip or CL; cleft palate or CP; and cleft lip with palate or CLP), the genetic basis for this group of common malformations remains an enigma. It is clear that multiple genes influence risk to oral clefts and these genes likely interact with one another and with environmental risk factors. High throughput genotyping techniques are now available to permit genome wide tests of association and linkage in case-parent trio and case-control study designs. The Hopkins group has extensive experience in international collaborative research on oral clefts in China, and here we propose a collaborative study with colleagues at Western China University in Chengdu to support a case-parent trio study of 500 cleft probands, along with a sample of 500 control infants, that would involve genome wide tests for linkage and association to identify causal genes for oral clefts. This unique proposal combines the research expertise of the Hopkins group with the clinical expertise and resources of one of the largest cleft treatment centers in China, and offers the opportunity for Smile Train to build upon its considerable service to this region of China while expanding our understanding of the causes of oral clefts.