Suspension array-based deafness genetic screening in 53,033 Chinese newborns identifies high prevalence of 109 GA in GJB2
| Autor: | Xiao-ling Wen, De-feng Feng, Qi-qiang Dai, Yu Zou, Wei-ping Zhou, Wei-jing Tao, Hua Deng, Liang Zhang, Mi Li |
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| Rok vydání: | 2019 |
| Předmět: |
Male
China Heterozygote Hearing loss Genetic counseling Gene mutation Deafness Congenital hearing loss Compound heterozygosity Connexins 03 medical and health sciences 0302 clinical medicine Neonatal Screening Asian People Gene Frequency 030225 pediatrics otorhinolaryngologic diseases medicine Prevalence Humans Genetic Testing Allele 030223 otorhinolaryngology Allele frequency Oligonucleotide Array Sequence Analysis Genetics Homoplasmy business.industry Homozygote Infant Newborn General Medicine Mitochondria Connexin 26 Otorhinolaryngology RNA Ribosomal Sulfate Transporters Pediatrics Perinatology and Child Health Mutation Female medicine.symptom business |
| Zdroj: | International journal of pediatric otorhinolaryngology. 126 |
| ISSN: | 1872-8464 |
| Popis: | Objectives More than 50% of congenital hearing loss is attributed to genetic factors. Data of gene mutation associated with hearing loss from large population studies in Chinese population are scarce. In this study, we conducted a comprehensive newborn genetic screening in China to establish the carrier frequency and mutation spectrum of deafness-associated genes. Methods A total of 53,033 newborns were screened for hearing defects associated mutations. Twenty hot spot mutations in GJB2, GJB3, SLC26A4 and mitochondria12S rRNA were examined using suspension array analysis. Results 14,185 newborns (26.75%) were identified with at least one mutated allele. 872 (1.64%) neonates carried homozygous mutations including 112 (0.21%) mitochondrial DNA homoplasmy, 228 (0.43%) were compound heterozygotes, and 11,985 (22.59%) were heterozygotes including 11 (0.02%) mitochondrial DNA heteroplasmy. Top five mutations included 109 G > A, 235 delC, 299–300 delAT in GJB2, IVS7-2 A > G in SLC26A4 and 1555 A > G in mitochondria12S rRNA. Notably, a total of 10,995 neonates (20.73%) carried 109 G > A in GJB2. Moreover, the allele frequencies of 109 G > A were detected 11.61% in Guangdong, 10.44% in Sichuan and 2.88% in Shandong, respectively, a significant difference in prevalence among these geographic regions (p A in GJB2 was confirmed by a TaqMan probe-based qPCR assay. Very recently, the ClinGen Hearing Loss Expert Panel reached a consensus and confirmed its pathogenic role in hearing impairment. Conclusion We delineated the mutation profile of common deafness-causing genes in the Chinese population and highlighted the high prevalence of 109 G > A pathogenic mutation. Our study may facilitate early diagnosis/intervention and genetic counseling for hearing impairment in clinical practice. |
| Databáze: | OpenAIRE |
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