Molecular analysis of SLC26A4 gene in a Chinese deafness family / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To identify the pathogenic gene for a non-syndromic hearing loss family.</p><p><b>METHODS</b>Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.</p><p><b>RESULTS</b>Compound heterozygous mutations N392Y and S448X were detected in the proband of the family, heterozygous mutation S448X was detected in the father, heterozygous mutation N392Y was detected in the mother.</p><p><b>CONCLUSION</b>The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.</p>