… and is defective in human autosomal-recessive deafness 93 (… T) that causes a recessive
nonsyndromic hearing impairment … mutation in CABP2, which is thought to truncate the CaBP2 …

… 7 other most common autosomal recessive nonsyndromic HL (… mutations have been reported
for the CABP2 gene to cause … CABP2 variantsalso cause severe ARNSHL, adding CABP2 …

… , in which cochlear morphology is preserved over a time … autosomal recessive hearing
impairment DFNB93, caused … Connected to that, our current analysis of the Cabp2 expression was …

… first case of CABP2-related autosomal recessive hearing loss in … the inner hair cells thus
affecting further transmission of auditory … 1G>T mutation, making an accurate estimate of carrier …

… detected in genes CABP2, ILDR1, LHFPL5 and LRTOMT. … deafness, autosomal recessive)
is predominantly caused by … membrane protein of hair cell stereocilia). TMHS is present in …

… , SNHL is caused by the degeneration of inner ear hair cells, … Here, we report two novel
mutations in CABP2 and OTOA … its expression has been reported in inner hair cells, supporting …

… DFNB93 autosomal recessive hearing loss [13]. Compared to the wild-type CaBP2, the mutant
form of CaBP2 is … [13] results from loss-of function of CaBP2 in inner hair cells or in other …

… is expressed on the surface of the spiral limbus in the cochlea.[ … damage to inner hair cells'
sensibility as the main cause of … al Mutations in GJB2 as major causes of autosomal recessive …

… are related to autosomal recessive hearing loss (DFNB). … , cognition, and emotional expression;
therefore, early … homozygous mutations in ESRRB, CDH23, TMIE, and CABP2 from five …

… as an autosomal recessive deafness gene (DFNB67) [30,31]. … animal models causes profound
hearing loss associated with … In addition, based on this study, CaBP2 would only have a …