Literature DB >> 35186384

Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations.

Manisha Ray1, Saurav Sarkar2, Mukund Namdev Sable1.   

Abstract

Congenital nonsyndromic hearing loss (NSHL) has been considered as one of the most prevalent chronic disorder in children. It affects the physical and mental conditions of a large children population worldwide. Because of the genetic heterogeneity, the identification of target gene is very challenging. However, gap junction β-2 ( GJB2 ) is taken as the key gene for hearing loss, as its involvement has been reported frequently in NSHL cases. This study aimed to identify the association of GJB2 mutants in different Indian populations based on published studies in Indian population. This will provide clear genetic fundamental of NSHL in Indian biogeography, which would be helpful in the diagnosis process. Thieme. All rights reserved.

Entities:  

Keywords:  GJB2; India; genetics; mutation; nonsyndromic hearing loss

Year:  2021        PMID: 35186384      PMCID: PMC8847051          DOI: 10.1055/s-0041-1740532

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN: 2146-460X


  49 in total

1.  Autosomal dominant hearing loss resulting from p.R75Q mutation in the GJB2 gene: nonsyndromic presentation in a South Indian family.

Authors:  Amritkumar Pavithra; Mathiyalagan Selvakumari; Venkatesan Nityaa; Narasimhan Sharanya; Rajagopalan Ramakrishnan; Murali Narasimhan; C R Srikumari Srisailapathy
Journal:  Ann Hum Genet       Date:  2014-11-13       Impact factor: 1.670

2.  Novel OTOF pathogenic variant segregating with non-syndromic hearing loss in a consanguineous family from tribal Rajouri in Jammu and Kashmir.

Authors:  Raja A H Kuchay; Yaser Rafiq Mir; Xue Zeng; Asima Hassan; Kazunori Namba; Mustafa Tekin
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2019-12-16       Impact factor: 1.675

3.  Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.

Authors:  Bidisha Adhikary; Sudakshina Ghosh; Silpita Paul; Biswabandhu Bankura; Arup Kumar Pattanayak; Subhradev Biswas; Biswanath Maity; Madhusudan Das
Journal:  Gene       Date:  2015-07-16       Impact factor: 3.688

4.  High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications.

Authors:  Amritkumar Pavithra; Justin Margret Jeffrey; Jayasankaran Chandru; Arabandi Ramesh; C R Srikumari Srisailapathy
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

5.  Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.

Authors:  Puppala Venkat Ramchander; Khirod Chandra Panda; Ashok Kumar Panda
Journal:  Genet Test Mol Biomarkers       Date:  2010-08

6.  High frequency of heterozygosity in GJB2 mutations among patients with non-syndromic hearing loss.

Authors:  G Khandelwal; S Bhalla; M Khullar; N K Panda
Journal:  J Laryngol Otol       Date:  2008-06-23       Impact factor: 1.469

7.  Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.

Authors:  M RamShankar; S Girirajan; O Dagan; H M Ravi Shankar; R Jalvi; R Rangasayee; K B Avraham; A Anand
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

8.  Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.

Authors:  Ram Shankar Mani; Aparna Ganapathy; Rajeev Jalvi; C R Srikumari Srisailapathy; Vikas Malhotra; Shelly Chadha; Arun Agarwal; Arabandi Ramesh; Raghunath Rao Rangasayee; Anuranjan Anand
Journal:  Eur J Hum Genet       Date:  2008-10-22       Impact factor: 4.246

Review 9.  The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment.

Authors:  Barbara Vona; Aboulfazl Rad; Ellen Reisinger
Journal:  Genes (Basel)       Date:  2020-11-26       Impact factor: 4.096

10.  Hearing loss: rising prevalence and impact.

Authors:  Adrian C Davis; Howard J Hoffman
Journal:  Bull World Health Organ       Date:  2019-10-01       Impact factor: 9.408

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.