The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

Yan, Denise; Kannan-Sundhari, Abhiraami; Vishwanath, Subramanian; Qi, Jie; Mittal, Rahul; Kameswaran, Mohan; Liu, Xue Zhong

doi:10.1089/gtmb.2015.0023

Cited by 25 publications

(16 citation statements)

References 91 publications

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“…When the Pakistani population is compared to other populations i.e. Iranian (Ghasemnejad, Shekari Khaniani, Zarei, Farbodnia, & Mansoori Derakhshan, 2017; Sloan-Heggen et al, 2015), Indian (Yan et al, 2015), Chinese (Jiang et al, 2015; Xin et al, 2013; Zhang et al, 2016), African-descent (Rudman et al, 2017), European ancestry (Yan et al, 2017) or multi-ethnic (Sloan-Heggen et al, 2016; Yan et al, 2016), the distribution of genes associated with nonsyndromic HL and the variants reveal differences and commonalities. Some of the most prevalent “HL genes” in all of these populations are SLC26A4, GJB2 and MYO7A .…”

Section: Discussionmentioning

confidence: 99%

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Rlp

Faridi

et al. 2018

Human Mutation

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Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive hearing loss (HL) worldwide. In this study, we utilized genome-wide genotyping, Sanger and exome sequencing to identify 163 DNA variants in 41 previously reported HL genes segregating in 321 Pakistani families. Of these, 71 (43.6%) variants identified in 29 genes are novel. As expected from genetic studies of disorders segregating in consanguineous families, the majority of affected individuals (94.4%) are homozygous for HL-associated variants, with the other variants being compound heterozygotes. The five most common HL genes in the Pakistani population are SLC26A4, MYO7A, GJB2, CIB2 and HGF, respectively. Our study provides a profile of the genetic etiology of HL in Pakistani families, which will allow for the development of more efficient genetic diagnostic tools, aid in accurate genetic counseling and guide application of future gene-based therapies. These findings are also valuable in interpreting pathogenicity of variants that are potentially associated with HL in individuals of all ancestries. The Pakistani population, and its infrastructure for studying human genetics, will continue to be valuable to gene discovery for HL and other inherited disorders.

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Section: Discussionmentioning

confidence: 99%

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Rlp

Faridi

et al. 2018

Human Mutation

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“…6 In Pakistan, it is estimated about 1.6 per 1000 persons have bilateral hearing loss and 70% increase is due consanguineous families. 7 A survey conducted at the rural area of Pakistan showed total hearing impaired as 7.9%. 8 Children with hearing & speech impairment have greatest barrier of communication.…”

Section: Introductionmentioning

confidence: 99%

Oral Health Status Among Hearing and Speech Impaired Children of Karachi, Pakistan

Azfar¹,

Khan²,

Quershi³

et al. 2018

J Pak Dent Assoc

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To evaluate dental status of children with hearing and speech impairment of Karachi Pakistan. METHODOLOGY: This cross sectional study was conducted in Karachi, Pakistan for a period of 6 month among 106 children with hearing and speech impairment aged 5-15 years of either gender attending Deaf Reach School. After taking informed consent the subjects were examined for oral health status. Dental caries was assessed by using DMFT index and Oral hygiene status was assessed by using oral hygiene index simplified (OHIS). The data were analyzed using SPSS version 23. RESULTS: The overall caries prevalence in the study population was 51% with an overall mean DMFT score of 2.08 (±2.97). Out of 106 hearing and speech impaired children, majority had good hygiene status (48.1%), 46.2% had fair hygiene status and only 5.7% had poor hygiene status with overall mean OHI-S score of 1.45±1.01. CONCLUSION: A high prevalence of dental caries was observed among hearing and speech impaired children.

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“…Hearing loss is the most common sensory deficit in human populations causing significant deterioration in the quality of life (Géléoc and Holt, 2014 ). About 50–60% of hearing loss cases have a genetic etiology (Ouyang et al, 2009 ; Angeli et al, 2012 ; Bogo et al, 2015 ; Chakchouk et al, 2015 ; Grati et al, 2015 ; Parker and Bitner-Glindzicz, 2015 ; Qing et al, 2015 ; Wang et al, 2015 ; Yan et al, 2015 ). The remaining 40–50% of cases are attributed to environmental factors such as ototoxic drugs, prematurity, or trauma (Roizen, 1999 ; Furness, 2015 ; Momi et al, 2015 ).…”

Section: Introductionmentioning

confidence: 99%

Characterization of ATPase Activity of P2RX2 Cation Channel

et al. 2016

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P2X purinergic receptors are plasma membrane ATP-dependent cation channels that are broadly distributed in the mammalian tissues. P2RX2 is a modulator of auditory sensory hair cell mechanotransduction and plays an important role in hair cell tolerance to noise. In this study, we demonstrate for the first time in vitro and in cochlear neuroepithelium, that P2RX2 possesses the ATPase activity. We observed that the P2RX2 V60L human deafness mutation alters its ability to bind ATP, while the G353R has no effect on ATP binding or hydrolysis. A non-hydrolysable ATP assay using HEK293 cells suggests that ATP hydrolysis plays a significant role in the opening and gating of the P2RX2 ion channel. Moreover, the results of structural modeling of the molecule was in agreement with our experimental observations. These novel findings suggest the intrinsic ATPase activity of P2RX2 and provide molecular insights into the channel opening.

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The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations

Cited by 25 publications

References 91 publications

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

Oral Health Status Among Hearing and Speech Impaired Children of Karachi, Pakistan

Characterization of ATPase Activity of P2RX2 Cation Channel

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