Implications in disclosing auditory genetic mutation to a family: A case study

Giriraj Singh Shekhawat; M. RamShankar; Rajeev R. Jalvi; R. Rangasayee; Anuranjan Anand

doi:10.1080/14992020701297805

Implications in disclosing auditory genetic mutation to a family: A case study

Giriraj Singh Shekhawat, M. RamShankar, Rajeev R. Jalvi, R. Rangasayee, Anuranjan Anand

Research output: Contribution to journal › Article › peer-review

Abstract

The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department of biotechnology is funding a multicentric multidisciplinary team from Jawaharlal Nehru Center for Advanced Scientific Research (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), and MAMC (New Delhi) to profile mutations of deafness genes in India. Under this program, blood samples were taken from various centers and were sent to JNCASR for genetic analysis (screening for Cx26 mutations). This case study is an attempt to bring out issues encountered when disclosing the implications of genetic diagnosis to the concerned family.

Original language	English (US)
Pages (from-to)	384-387
Number of pages	4
Journal	International Journal of Audiology
Volume	46
Issue number	7
DOIs	https://doi.org/10.1080/14992020701297805
State	Published - Jul 2007

Keywords

Connexin 26
Genetic counseling
Hearing impairment
Mutation

ASJC Scopus subject areas

Language and Linguistics
Linguistics and Language
Speech and Hearing

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10.1080/14992020701297805

Cite this

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abstract = "The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department of biotechnology is funding a multicentric multidisciplinary team from Jawaharlal Nehru Center for Advanced Scientific Research (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), and MAMC (New Delhi) to profile mutations of deafness genes in India. Under this program, blood samples were taken from various centers and were sent to JNCASR for genetic analysis (screening for Cx26 mutations). This case study is an attempt to bring out issues encountered when disclosing the implications of genetic diagnosis to the concerned family.",

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AU - Rangasayee, R.

AU - Anand, Anuranjan

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AB - The aim of the study is to understand the implications of disclosing the results of connexin26 (Cx26) gene testing to the concerned family with hearing impaired individuals. The department of biotechnology is funding a multicentric multidisciplinary team from Jawaharlal Nehru Center for Advanced Scientific Research (Bangalore), AYJNIHH (Mumbai), PGIBMS (Chennai), and MAMC (New Delhi) to profile mutations of deafness genes in India. Under this program, blood samples were taken from various centers and were sent to JNCASR for genetic analysis (screening for Cx26 mutations). This case study is an attempt to bring out issues encountered when disclosing the implications of genetic diagnosis to the concerned family.

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Implications in disclosing auditory genetic mutation to a family: A case study

Abstract

Keywords

ASJC Scopus subject areas

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