Abstract
BackgroundHearing impairment is one of most frequent birth defects, which affects nearly 1 in every 1,000 live births. However, the molecular etiology of non‐syndromic deafness in China is not well studied. Here, we have investigated the presence of mutations in three genes commonly mutated in non‐syndromic deafness patients in Shanxi Province, which has the highest frequency of birth defects in China.MethodsIn total, 1,201 unrelated non‐syndromic deafness patients and 300 healthy individuals were enrolled. The hearing ability was confirmed by audiologic evaluation. Three major deafness‐related genes (GJB2, SLC26A4 (PDS), and mtDNA 12S rRNA) of all individuals enrolled were analyzed by Sanger sequencing.ResultsThe results showed that GJB2 mutations accounted for 21.23% (255/1,201) in the patient group, with c.235delC, a hotspot mutation, accounting for 10.99% (132/1,201). Moreover, 11 new GJB2 mutations were identified. SLC26A4 mutations accounted for 9.33% (112/1,201) in the patient group, with IVS7‐2A>G as the most prevalent mutation accounting for 4.75% (57/1,201). In addition, 15 patients (1.25%) were found to carry mtDNA 12S rRNA c.1555A>G mutation, while only two cases had the mtDNA 12S rRNA c.1494C>T.ConclusionIn our research, it was found that c.235delC in GJB2 and c.919‐2A>G (IVS7‐2A>G) in SLC26A4 were the highest frequency pathogenic variants in Shanxi Province. Taken together, our data will enrich the database of deafness mutations and will help clinical diagnosis, treatment, and genetic counseling of hearing impairment.
Highlights
Hearing impairment is one of the most common sensory disorders; it affects about 70 million people around the world, and notably, almost one live birth in every 1,000 newborns has hearing impairment
Many new genes have been found, the most common genes associated with hearing impairment still are GJB2, SLC26A4, and mitochondrial DNA (mtDNA) 12S ribosomal RNAs (rRNAs)
Mutations in SLC26A4 were detected in the 1,201 patients (Figure 3). c.919‐2A>G was found in 57 patients and c.2168A>G was identified in 20 patients.This study revealed that 2.66% (32/1,201) of the patients had two mutant alleles
Summary
Hearing impairment is one of the most common sensory disorders; it affects about 70 million people around the world, and notably, almost one live birth in every 1,000 newborns has hearing impairment. More than half of childhood hearing impairment is caused by genetic defects. | 2 of 8 approximately 70% are non‐syndromic, in which the hearing impairment is the only distinctive clinical feature in these patients (Nance, Lim, & Dodson, 2006; Qing et al, 2015). Many new genes have been found, the most common genes associated with hearing impairment still are GJB2, SLC26A4, and mtDNA 12S rRNA. We have investigated the presence of mutations in three genes commonly mutated in non‐syndromic deafness patients in Shanxi Province, which has the highest frequency of birth defects in China. Three major deafness‐related genes (GJB2, SLC26A4 (PDS), and mtDNA 12S rRNA) of all individuals enrolled were analyzed by Sanger sequencing. Our data will enrich the database of deafness mutations and will help clinical diagnosis, treatment, and genetic counseling of hearing impairment
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