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 journalArticlepeer-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 languageEnglish
Pages (from-to)384-387
Number of pages4
JournalInternational Journal of Audiology
Volume46
Issue number7
DOIs
Publication statusPublished - Jul 2007
Externally publishedYes

Keywords

  • Connexin 26
  • Genetic counseling
  • Hearing impairment
  • Mutation

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