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A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.

ABSTRACT: Hearing loss is the most common sensory disorder, and at least 50% of cases are due to a genetic etiology. Two-thirds of individuals with congenital deafness are nonsyndromic. Among the nonsyndromic forms, the large majority are monogenic autosomal recessive traits. The current work summarizes mutations in the GJB2, SLC26A4, 12SrRNA, and GJB3 and their prevalence in 318 students with autosomal recessive nonsyndromic hearing loss at schools for the deaf or special needs schools in 9 cities in Hebei Province, China. Deafness gene mutations were identified in 137 students via a gene chip, time-of-flight mass spectrometry, fluorescence quantitative PCR, and gene sequencing. Mutations were detected at a rate of 43.08%. A homozygous mutation of the GJB2 gene was found in 16 students (5.03%), a heterozygous mutation of that gene was found in 38 (11.95%), a homozygous mutation of the SLC26A4 gene was found in 22 (6.92%), a heterozygous mutation of that gene was found in 59 (18.55%), and a heterozygous mutation of the mitochondrial 12SrRNA gene was found in 2 (0.63%). In addition, there were 15 families in which a student's parents had normal hearing. Compound heterozygous mutations of the GJB2 gene were found in 3 families (20%) and mutations of the SLC26A4 gene were found in 9 (60%). Thus, this study has provided a molecular diagnostic basis for the causes of deafness, and this study has also provided a scientific basis for the early prevention of and intervention in deafness.

SUBMITTER: Zhu J

PROVIDER: S-EPMC4561242 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature

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A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.

Zhu Junzhen J Cao Qinying Q Zhang Ning N Ge Jun J Sun Donglan D Feng Qingqi Q

Intractable & rare diseases research 20150801 3

Hearing loss is the most common sensory disorder, and at least 50% of cases are due to a genetic etiology. Two-thirds of individuals with congenital deafness are nonsyndromic. Among the nonsyndromic forms, the large majority are monogenic autosomal recessive traits. The current work summarizes mutations in the GJB2, SLC26A4, 12SrRNA, and GJB3 and their prevalence in 318 students with autosomal recessive nonsyndromic hearing loss at schools for the deaf or special needs schools in 9 cities in Heb ...[more]

PMID: 26361564

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Project description:BACKGROUND:DFNB1, the first locus to have been associated with deafness, has two major genes GJB2 & GJB6, whose mutations have played vital role in hearing impairment across many ethnicities in the world. In our present study we have focused on the role of these mutations in assortative mating hearing impaired families from south India. METHODS:One hundred and six assortatively mating hearing impaired (HI) families of south Indian origin comprising of two subsets: 60 deaf marrying deaf (DXD) families and 46 deaf marrying normal hearing (DXN) families were recruited for this study. In the 60 DXD families, 335 members comprising of 118 HI mates, 63 other HI members and 154 normal hearing members and in the 46 DXN families, 281 members comprising of 46 HI and their 43 normal hearing partners, 50 other HI members and 142 normal hearing family members, participated in the molecular study. One hundred and sixty five (165) healthy normal hearing volunteers were recruited as controls for this study. All the participating members were screened for variants in GJB2 and GJB6 genes and the outcome of gene mutations were compared in the subsequent generation in begetting deaf offspring. RESULTS:The DFNB1 allele frequencies for DXD mates and their offspring were 36.98 and 38.67%, respectively and for the DXN mates and their offspring were 22.84 and 24.38%, respectively. There was a 4.6% increase in the subsequent generation in the DXD families, while a 6.75% increase in the DXN families, which demonstrates the role of assortative mating along with consanguinity in the increase of DFNB1 mutations in consecutive generations. Four novel variants, p.E42D (in GJB2 gene), p.Q57R, p.E101Q, p.R104H (in GJB6 gene) were also identified in this study. CONCLUSION:This is the first study from an Indian subcontinent reporting novel variants in the coding region of GJB6 gene. This is perhaps the first study in the world to test real-time, the hypothesis proposed by Nance et al. in 2000 (intense phenotypic assortative mating mechanism can double the frequency of the commonest forms of recessive deafness [DFNB1]) in assortative mating HI parental generation and their offspring.

Dataset Information

A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.

Publications

A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China.

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