Implications in disclosing auditory genetic mutation to a family: a case study.
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.
Shekhawat
Giriraj Singh
GS
Ali Yavar Jung National Institute for the Hearing Handicapped, Mumbai, India. girirajss@gmail.com
RamShankar
M
M
Jalvi
Rajeev R
RR
Rangasayee
R
R
Anand
Anuranjan
A
D000328:Adult; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D030881:Disclosure; D005190:Family; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26