Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in theGJB2Gene: Nonsyndromic presentation in a South Indian Family-Reference-Cited by-同舟云学术

Autosomal Dominant Hearing Loss resulting from p.R75Q Mutation in theGJB2Gene: Nonsyndromic presentation in a South Indian Family

Published:2014-11-13 Issue:1 Volume:79 Page:76-82
ISSN:0003-4800
Container-title:Annals of Human Genetics
language:en
Short-container-title:Annals of Human Genetics

Author:

Pavithra Amritkumar¹,Selvakumari Mathiyalagan¹,Nityaa Venkatesan¹,Sharanya Narasimhan¹,Ramakrishnan Rajagopalan²,Narasimhan Murali³,Srisailapathy C.R. Srikumari¹

Affiliation:

1. Department of Genetics; Dr. ALM Post Graduate Institute of Basic Medical Sciences; University of Madras; Taramani Campus; Chennai India

2. Department of ENT; SRM Medical College Hospital and Research Centre; SRM University; Potheri Kattankulathur India

3. Department of Dermatology; SRM Medical College Hospital and Research Centre; SRM University; Potheri Kattankulathur India

Funder

Ad-hoc Research Project of the Indian Council of Medical Research (ICMR)

Government of India to C.R.Srikumari Srisailapathy

Special Assistance Program-DRS II of University Grants Commission (UGC)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ahg.12086/fullpdf

Reference28 articles.

1. An overview of hereditary hearing loss;Bayazit;ORL J Otorhinolaryngol Relat Spec,2006

2. Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene;Birkenhäger;Am J Med Genet A,2010

3. Prevalence of GJB2 mutations and the del(GJB6-D13S1830) in Argentinean non-syndromic deaf patients;Dalamon;Hear Res,2005

4. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;Del Castillo;J Med Genet,2005

5. A deletion involving the connexin 30 gene in nonsyndromic hearing impairment;Del Castillo;N Engl J Med,2002

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2. Case Report: A Novel GJB2 Missense Variant Inherited From the Low-Level Mosaic Mother in a Chinese Female With Palmoplantar Keratoderma With Deafness;Frontiers in Genetics;2022-07-22

3. Genetics Landscape of Nonsyndromic Hearing Loss in Indian Populations;Journal of Pediatric Genetics;2021-12-14

4. Functional Evaluation of a Rare Variant c.516G>C (p.Trp172Cys) in the GJB2 (Connexin 26) Gene Associated with Nonsyndromic Hearing Loss;Biomolecules;2021-01-05

5. Role of DFNB1 mutations in hereditary hearing loss among assortative mating hearing impaired families from South India;BMC Medical Genetics;2018-06-19