Moleculargenetic Analyse of non-syndromic hearing-impairment in early childhood using the example of the gene MYO15 A

Introduction:

A relevant hearing-impairment is related to 3 out of 1000 newborns or occurs until the age of two. Thereof nearly 60% are genetically determined. For non-syndromic autosomal-recessive inherited hearing-impairment 105 gene loci and within those 63 genes are causally known. Genetic changes in DFNB3 gene, in which the MYO15A gene is located, represents the third most common cause for recessive inherited non-syndromic hearing-impairment globally. Of 206 identified changes, 82 are categorized as sure pathogenetic, the rest as likley and unknown pathogenetic.

Methods:

The gene MYO15A has to be sequenced on a larger group of patients (116), of which in the first two years of childhood a serious non-syndromic hearing-impairment appeared and no change in the DFNB1 gene locus or rather the GJB2 gene could have been identified. By bidirectional sequencing from the encoding gene section and the Intron-transitions, the genetic modulation were proven. Due to databases and analytic software of the international human sequencing-projects they have been checked on their functional relevance.

Results:

So far 12 different mutations and 4 polymorphisms have been proven.

Conclusion:

Taking into account all examined patients, there has been identified several mutations and polymorphisms. However further DNA sequencing are necessary to examine the significance of the gene.

Publication History

Publication Date:
18 April 2018 (online)