Abstract
BackgroundGiven that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population.Methods7,263 unrelated women of childbearing age with normal hearing and without family history of hearing loss were tested with allele-specific PCR-based universal array. Further genetic testing were provided to the spouses of the screened carriers. For those couples at risk, multiple choices were provided, including prenatal diagnosis.ResultsAmong the 7,263 normal hearing participants, 303 subjects carried pathogenic mutations included in the screening chip, which made the carrier rate 4.17%. Of the 303 screened carriers, 282 harbored heterozygous mutated genes associated with autosomal recessive hearing loss, and 95 spouses took further genetic tests. 8 out of the 9 couples harbored deafness-causing mutations in the same gene received prenatal diagnosis.ConclusionsGiven that nearly 90 to 95 percent of deaf and hard-of-hearing babies are born into hearing families, better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the female population of childbearing age may be of importance in carrier screening and genetic counseling.
Highlights
Given that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population
Given that approximately 90 to 95 percent of deaf and hard-of-hearing babies are born into hearing families [9], better understanding about the carrier rate and mutation spectrum of genes associated with hearing loss in the female population of childbearing age may be of vital importance in carrier screening, genetic testing, as well as in providing accurate counseling
A microarray developed by CapitalBio (CapitalBio, Beijing, China) was designed to detect nine hotspot mutations in Chinese population, based on large-scale epidemiological studies across 28 provinces and municipalities [12,13,14,15,16], indicating that the majority (>80%) of hereditary hearing loss in Chinese patients were related to those nine hotspot mutations
Summary
Given that hearing loss occurs in 1 to 3 of 1,000 live births and approximately 90 to 95 percent of them are born into hearing families, it is of importance and necessity to get better understanding about the carrier rate and mutation spectrum of genes associated with hearing impairment in the general population. In China, approximately 30,000 infants are born with congenital hearing loss per 20 million live births every year [1,2]. A microarray developed by CapitalBio (CapitalBio, Beijing, China) was designed to detect nine hotspot mutations in Chinese population, based on large-scale epidemiological studies across 28 provinces and municipalities [12,13,14,15,16], indicating that the majority (>80%) of hereditary hearing loss in Chinese patients were related to those nine hotspot mutations. The parallelism offered by the microarray platform makes it suited for genotyping of genetically heterogeneous condition of hearing loss [17,18,19], especially in the carrier screening practice
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