中华耳科学杂志2016，Vol.14Issue(4)：526-530,5.DOI:10.3969/j.issn.1672-2922.2016.04.019
1例非综合征性Mondini畸形家系的研究
Nonsyndromic Mondini Dysplasia in a Chinese family
摘要
Abstract
Objective To report audiological and inheritance patterns of familial nonsyndromic Mondini dysplasia (MD) in a Chinese family. Methods Clinical data, including audiometric and CT imaging results, from a family with MD were collected. The phenotypic properties and possible hereditary modes were analyzed. Results The propositus were a pair of male heterozygotic twins (Ⅲ:1,Ⅲ:2). Based on audiometric and imagological examinations, three patients in this family, including the father (Ⅱ:1) of the twins, were diagnosed with bilateral nonsyndromic MD. The two propositus were tested using a common deafness gene chip covering the SLC26A4, GJB2, GJB3, mitochondrial 12S rRNA and MITF genes and by whole exome sequencing for MITF genes. No mutation was found in this family on these genes. Conclusion According to pedigree mapping, autosomal recessive inheritance is considered to be the most probable inheritance pattern in this family. It is also possible that the mutation may have been passed to the two propositus in a dominant manner, owing to de novo muta-tions in the father. However, common deafness gene chip and test for candidate MITF revealed no mutations. MD in this family may be caused by unknown pathogenic genes that will require more comprehensive gene testing.关键词
Mondini畸形/听力损失/SLC26A4和MITF基因Key words
Monidini dysplasia/hearing loss/SLC26A4 and MITF genes分类
医药卫生引用本文复制引用
彭宏,杨乐,龚平桂,郭维维,杨仕明..1例非综合征性Mondini畸形家系的研究[J].中华耳科学杂志,2016,14(4):526-530,5.基金项目
国家自然科学基金（81572666）Project supported by the National Nature Science Foundation of China(Grant No.81572666) （Grant No.81572666）
