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<i>GJB2</i>Gene Related nonsyndromic Hearing Loss in Mazandaran Province, North of Iran

Open Journal of Genetics 2020年第3期10卷 51-63页

作者： Elaheh Hosseini Seyed Saeid Mousavi Atefeh Khoshaein Fatemeh Daneshpour Moosa Rajabi Vandchali S. Mohammad Bagher Hashemi-Soteh Novin Genetic Diagnostic Laboratory Sari Iran Mehregan Genetic Counseling Center Sari Iran Novin Genetic Counseling Center Sari Iran Genetic Counseling Center State Welfare Organization of Mazandaran Province Sari Iran Immunogenetic Research Center Molecular and Cell Biology Research Center Faculty of Medicine Mazandaran University of Medical Sciences Sari Iran

Introduction: Congenital hearing loss is the most common sensory deficit in the world and mutations in GJB2 gene are the most common cause of deafness in many populations. Frequency of GJB2 mutations is estimated about 16% in Iran and varies among different provinces with a decreasing trend from north to south. The aim of this study was to investigate the frequency of GJB2 mutations in Mazandaran province, north of Iran, among non-syndromic hearing loss patients. Methods: 262 patients from 204 families participated in this study. After genomic DNA extraction, GJB2 gene analysis was carried out using DNA sequencing of both coding and non-coding regions by ABI 3130XL genetic analyzer. Results: 30.15% of all subjects showed mutations in GJB2 gene. Four mutations, including c.35delG (Gly12Valfs*), IVSI-1 + 1G > A, c.95G > A (Arg32His) and c.224 G > A (Arg75Gln) comprises 69.89% of all mutations in this study c.35delG and IVSI-1 were the most common mutations among patients respectively. Codon 75 mutation (c.224G > A. p: Arg75Gln) with autosomal dominant inheritance was seen in 7 cases from 3 families. 22 patients showed only one mutation in GJB2 gene and in 126 (48.09%) individuals, parents had a consanguineous marriage. Discussion: Frequency of GJB2 gene related hearing loss among patients was higher than average (16%) in this province. This study also showed a dominant inheritance pattern of GJB2 gene in this area. Consanguineous marriage also showed highly frequent among parents. More investigation needs to clarify cause of hearing loss in those 22 patients with one mutation in GJB2 gene, either two gene inheritance or another gene may be responsible for hearing loss.

关键词： Hearing Loss GJB2 Mazandaran Hereditary Deafness nonsyndromic

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Whole-exome sequencing identifies novel mutations in genes responsible for retinitis pigmentosa in 2 nonconsanguineous Chinese families

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International Journal of Ophthalmology(English edition) 2019年第6期12卷 915-923页

作者： Yan-Shan Hu Hui Song Yin Li Zi-Yun Xiao Tuo Li Department of Ophthalmology the Central Hospital of Enshi Autonomous Prefecture Enshi Clinical College of Wuhan University

AIM: To detect the pathogenetic mutations responsible for nonsyndromic autosomal recessive retinitis pigmentosa(RP) in 2 nonconsanguineous Chinese families. METHODS: The clinical data, including detailed medical history, best corrected visual acuity(BCVA), slit-lamp biomicroscope examination, fundus photography, optical coherence tomography, static perimetry, and full field electroretinogram, were collected from the members of 2 nonconsanguineous Chinese families preliminarily diagnosed with RP. Genomic DNA was extracted from the probands and other available family members;wholeexome sequencing was conducted with the DNA samples provided by the probands, and all mutations detected by whole-exome sequencing were verified using Sanger sequencing in the probands and the other available family members. The verified novel mutations were further sequenced in 192 ethnicity matched healthy ***: The patients from the 2 families exhibited the typical symptoms of RP, including night blindness and progressive constriction of the visual field, and the fundus examinations showed attenuated retinal arterioles, peripheral bone spicule pigment deposits, and waxy optic discs. Whole-exome sequencing revealed a novel nonsense mutation in FAM161 A(c.943 A>T, ***315*) and compound heterozygous mutations in RP1 L1(c.56 C>A, ***19 His;c.5470 C>T, ***1824*). The nonsense c.5470 C>T, ***1824* mutation was novel. All mutations were verified by Sanger sequencing. The mutation ***315* in FAM161A co-segregated with the phenotype, and all the nonsense mutations were absent from the ethnicity matched healthy controls and all available ***: We identify 2 novel mutations in genes responsible for autosomal recessive RP, and the mutation in FAM161A is reported for the first time in a Chinese population. Our result not only enriches the knowledge of the mutation frequency and spectrum in the genes responsible for nonsyndromic RP but also provides a new target for

关键词： retinitis pigmentosa nonsyndromic whole-exome sequencing mutation novel

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