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Molecular analysis of SLC26A4 gene in a Chinese deafness family

Hao Hu¹, De-sheng Liang, Ling-qian Wu

¹National Laboratory of Medical Genetics, Central South University, Changsha, Hunan, 410078 PR China.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|August 9, 2005

Abstract

Objective:

To identify the pathogenic gene for a non-syndromic hearing loss family.

Methods:

Mutation analysis was carried out by polymerase chain reaction and direct sequencing of all exons of SLC26A4 (solute carrier family 26, member 4) gene.

Results:

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.

Conclusion:

The proband's hearing loss resulted from the compound heterozygous mutations N392Y and S448X for SLC26A4 gene.

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