Prevalence of Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 Genes in 103 Children with Sensorineural Hearing Loss in Shaoxing, China

Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss. However, the frequency of hot-spot mutations and genotype-phenotype correlations in patients with sensorineural hearing loss (SNHL) has been less frequently reported. We conducted a study of 103 c...

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Bibliographic Details
Published in:Ear, nose, & throat journal nose, & throat journal, 2018-06, Vol.97 (6), p.E33-E38
Main Authors: Yu, Hong, Liu, Dan, Yang, Jingqun, Wu, Zhiqiang
Format: Article
Language:English
Subjects:
Alleles
Asian Continental Ancestry Group - genetics
Child
Child, Preschool
China
Connexins - genetics
Female
Gene Frequency
Genetics
Hearing loss
Hearing Loss, Sensorineural - genetics
Humans
Infant
Male
Membrane Transport Proteins - genetics
Mitochondrial Ribosomes
Mutation
Orphan Nuclear Receptors - genetics
Pediatrics
RNA, Ribosomal - genetics
Sulfate Transporters
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Summary:Mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes are known to be a common cause of hearing loss. However, the frequency of hot-spot mutations and genotype-phenotype correlations in patients with sensorineural hearing loss (SNHL) has been less frequently reported. We conducted a study of 103 children—56 boys and 47 girls, aged 5 months to 9 years (mean: 4.1 yr)—with SNHL who underwent genetic screening for 20 hot-spot mutations of the GJB2, SLC26A4, GJB3, and MT-RNR1 genes. Mutations were detected by multiple-PCR-based MALDI-TOF MS assay. At least one mutated allele was detected in 48 patients (46.6%), and 30 patients (29.1%) carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G, with allele frequencies of 23.8 and 6.8%, respectively. At least one mutant allele of SLC26A4 was detected in the 13 patients who had an enlarged vestibular aqueduct (EVA). Almost half of the children with SNHL carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. The mutations in SLC26A4 were prevalent and correlated strongly with EVA.
ISSN:0145-5613
1942-7522
DOI:10.1177/014556131809700603