Nonsyndromic Mondini Dysplasia in a Chinese family
PENG Hong
YANG Le
GONG Pinggui
GUO Weiwei
YANG Shiming
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.
Keywords：Monidini dysplasiahearing lossSLC26A4 and MITF genes
Publication Date：2016-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 526-530 )