DFNB8 | definition of DFNB8 by Medical dictionary
DFNB8 Abbreviation for:
deafness autosomal recessive type 8
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive
(1996) to be the underlying cause of postlingual (DFNB8) hearing impairment.
Compound heterozygosity for a mild and severe mutation leads to postlingual hearing loss (DFNB8), whereas the combination of two severe mutations leads to profound hearing impairment with prelingual onset (DFNB10) .
Mutations in TMPRSS3 have previously been described to cause autosomal recessive progressive hearing impairment with postlingual onset (DFNB8
) as well as severe-to-profound prelingual hearing impairment (DFNB10).
Autosomal recessive non-syndromic deafness locus (DFNB8
) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan.