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ONLINE MUTATION REPORT Contribution of connexin26 (GJB2) mutations and
 

Summary: ONLINE MUTATION REPORT
Contribution of connexin26 (GJB2) mutations and
founder effect to non-syndromic hearing loss in India
M RamShankar, S Girirajan, O Dagan, H M Ravi Shankar, R Jalvi, R Rangasayee,
K B Avraham, A Anand
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J Med Genet 2003;40:e68(http://www.jmedgenet.com/cgi/content/full/40/5/e68)
C
ongenital hearing loss has been documented to occur in
1 of 1000 live births, with over half of these cases
predicted to be hereditary in nature.1 2
Most hereditary
hearing loss is inherited in a recessive manner, accounting for
approximately 85% of non-syndromic hearing loss (NSHL).
Deafness is an extremely genetically heterogeneous disorder,
shown by the fact that 33 loci for recessive NSHL and 39 loci
for dominant NSHL have been mapped to date (updated regu-
larly on the Hereditary Hearing Loss Homepage: http://dnalab-
www.uia.ac.be/dnalab/hhh/index.html). In populations with
increased levels of consanguinity, such as India,3

  

Source: Avraham, Karen - Department of Human Genetics and Molecular Medicine, Tel Aviv University

 

Collections: Biology and Medicine