The Influence Of Mutations Of SOX10 And MITF On The Inner Ear Development Of Waardenburg Syndrome Patients

The mutations of SOX10 and MITF are mainly seen in Waardenburg syndr-ome, which is a generic terms of hearing impairment and color changes of skin, hair and eyes caused by genetic change. The incidence of WS is about 0.002 5%, and it is one of the significant causes of hearing loss of newborns. WS is di-vided into four types on the basis of clinical features and genetic characteristi c. Type ? and type ? are common types in clinic which are both characterized by color change of eyes and alopecia. Type ? and type ? are relatively infreq ue-nt, and they have pathologic change of upper lip or small intestine except sm ple WS symptoms. In the wake of continuous improvement of study of molecula r-biology and genetics, people have been able to reveal the pathogenesis at the le-vel of genes. Researches show that:mutations of PAX3?END3?EDNRB? SO X10?SNAI2?MITF has a close relationship with WS, but different genetic mut at-eons play different roles in different hypotype.The relevance between WS and PAX3 is relatively simple. Mutation of PAX 3 can be detected in about 90% of WS1 and WS3 patients. By contrast, the rel-ationship between other genes and other subtypes is relatively complicated. For e-xample, patients with MITF and SOX 10 mutations are both about 15%, and oth-er gene mutations have a relatively low percentage. SOX 10 mutations are about 50% in WS4 patients, and EDN3and EDNRB mutations have a lower ratio, and other mutations account for only a small proportion.WS2 patients have the highest percentage in all the Waa By comparing the incidence of the gene mutation corresponds to the inner ear malformation rdenburg syndrome patients and the quantity of WS2 patients is 20 to 50 times more than that of WS1 patients. WS3 and WS4 patients are rather rare to see. Therefore, we choose WS2 patients as object of study. We hope to find mutation sites of MIFT and SOX10 associated with WS patients in our country in order to improve the accuracy of gene diagnosis and prenatal screening of WS patients. In addition, by comparing the incidence of the gene mutations corresponds to inner ear malformations, find the corre-lation between gene mutations and inner ear malformations.