Detection of hot-spot mutation of SLC26A4 gene among the patients with hereditary hearing loss
Maternal and Child Health Care of China(2011)
Abstract
Objective:To explore the causes of hereditary hearing loss and the clinical effect and significance of hot-spot mutation by carrying out gene sequencing of exon 7+8,exon 10 and exon 19 in SLC26A4 gene among 42 patients with severe and extremely severe hearing loss and their parents from 29 families of autosomal recessive hereditary hearing loss.Methods:The clinical data of 29 families of autosomal recessive hereditary hearing loss were collected.The patients received pure tone audiometry,acoustic impedance test and auditory brainstem evoked potential test;polymerase chain reaction(PCR) and direct sequencing were used for gene detection of exon 7+8,exon 10 and exon 19 in SLC26A4 gene among 42 patients with severe and extremely severe hearing loss and their parents and 105 persons with normal hearing(control group).Results:Two kinds of mutation(IVS7-2AG and T410M) were found in hot-spot mutation of SLC26A4 gene.IVS7-2AG homozygous mutation was detected in a patient with extremely severe sensorineural hearing loss.IVS7-2AG heterozygous mutation was detected in two patients,and one patient with extremely severe sensorineural hearing loss was combined with T410M heterozygous mutation,the other patient was not accompanied by other mutations.Conclusion:IVS7-2AG homozygous mutation and IVS7-2AG heterozygous mutation combined with T410M heterozygous mutation of SLC26A4 gene both can cause hearing loss.
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Key words
hereditary hearing loss,slc26a4 gene,mutation,hot-spot
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