Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene.
- Author:
Qi LI
1
;
De-liang HUANG
;
Qing-wen ZHU
;
Yong-yi YUAN
;
Ru-ping FANG
;
Pu DAI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Amino Acid Sequence; Animals; Base Sequence; Child; Child, Preschool; DNA Mutational Analysis; methods; Female; Hearing Loss, Sensorineural; genetics; pathology; Humans; Male; Membrane Transport Proteins; chemistry; genetics; Mice; Molecular Sequence Data; Polymorphism, Single Nucleotide; genetics; Rats; Young Adult
- From: Chinese Journal of Medical Genetics 2010;27(6):610-615
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the whole sequence of the SLC26A4 gene in moderate to profound sensorineural hearing loss (SNHL) patients with IVS7-2A to G mutation of the gene in China.
METHODSWhole SLC26A4 gene sequence was analyzed by direct sequencing in 80 SLC26A4 gene IVS7-2A to G mutation carriers for the occurrence of a second mutation in the gene.
RESULTSForty-seven out of the 80 patients were found to have a second heterozygous mutation, whereas a single IVS7-2A to G mutation could be responsible for SNHL in the remaining 33 patients. Three novel mutations, 5+ 2T to A, 14-2A to G and 1825del G, were identified. The five most common mutations include H723R (20%), T410M(5%), C.1705+ 5G to A (15+ 5G to A)(5%), L676Q(5%), and N392Y (3.75%). Exon 17 harbored the most types of compound heterozygosity with the IVS7-2A to G mutation.
CONCLUSIONA Chinese specific SLC26A4 diversity was found, and comparable SLC26A4 contributing to deafness. This study suggested that if a heterozygous SLC26A4 mutation is found in a patient with deafness, other exons of the SLC26A4 gene should be analyzed. Furthermore, double heterozygosity of the SLC26A4 gene may also account for some of the disease phenotype.
