Dystrophia canthorum in Waardenburg syndrome with a novel MITF mutation

作     者：Xia-Jing Tang Xi-Yuan Ping Chen-Qi Luo Xiao-Ning Yu Ye-Lei Tang Xing-Chao Shentu 

作者机构：Eye Center of the Second Affiliated Hospital of Zhejiang UniversitySchool of MedicineHangzhouZhejiang ProvinceChina The Second Affiliated Hospital of Zhejiang UniversitySchool of MedicineHangzhouZhejiang ProvinceChina 

出 版 物：《International Journal of Ophthalmology(English edition)》 (国际眼科杂志（英文版）)

年 卷 期：2020年第13卷第7期

页      面：1054-1059页

核心收录：

学科分类：1002[医学-临床医学] 100213[医学-耳鼻咽喉科学] 10[医学] 

基　　金：Supported by the National Natural Science Foundation of China(No.81800807 No.81670834 No.81970781 No.81800869) the Natural Science Foundation of Zhejiang Province(No.LY17H090004) 

主　　题：Waardenburg syndrome gene MITF dystrophia canthorum whole-exome sequencing 

摘      要：AIM:To reveal a novel MITF gene mutation in Waardenburg syndrome(WS),which is an autosomal dominant inherited neurogenic disorder that consists of various degrees of sensorineural deafness and pigmentary abnormalities in the eyes,hair and ***:The genetic analysis of the Chinese family was conducted by whole-exome sequencing,then the results were confirmed by Sanger ***:WS is classified into type I to IV,which are identified by the W index,clinical characteristics and additional *** MITF gene mostly accounts for WS type *** this study,a de novo heterozygous mutation in the MITF gene,c.638 AG in exon 7,was identified in the patient diagnosed with WS type I features,as the W index was 2.17(over 2.10),with dystrophia canthorum,congenital bilateral profound hearing loss,bilateral heterochromia irides,premature greying of the hair,and excessive freckling on the face at *** also underwent refractive errors and esotropia,reduced pigmentation of the choroid and visible choroid *** mutation was not found in previous studies or mutation ***:The novel mutation in the MITF gene,which altered the protein in amino acids 213 from the glutamic acid to glycine,is the genetic pathological cause for WS features in the *** characteristics of this family revealed a novel genetic heterogeneity of MITF in WS,which expanded the database of MITF mutations and offered a possible in correcting the W index value of WS in distinct ***,ocular symptoms should be emphasized in all types of WS patients.