DFNA5

DFNA5

Notation for the gene for DFNA5.
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Other genes with prognostic value include HPP1 and DFNA5 [76, 77].
Yamashita et al., "Aberrant promoter methylation and tumor suppressive activity of the DFNA5 gene in colorectal carcinoma," Oncogene, vol.
TJP2 is one of the three apoptosis-associated genes that have been reported in connection with ADNSHHI, in addition to DFNA5 and MSRB3 .
Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet 1998;20:194-7.
DFNA5 is one of the deafness genes that known to cause autosomal dominant NSHL.
DFNA5 is one of the deafness genes with currently unknown function, which was mapped to chromosome 7p15 in 1995 and identified in 1998 in an extended Dutch family.
For the detection of alternative splicing in other parts of the mRNA in DFNA5 , the primers were selected as previously described.
Following this step-by-step filtering protocol, only one novel DFNA5 splice site mutation, IVS8+1 delG, was likely to be pathogenic according to this criterion [Figure 3] and [Figure 4]a.
In the present study, we described the ninth DFNA5 family with autosomal dominant hearing impairment.
In this study, we cannot rule out the possibility that environmental factors modify the clinical phenotype of DFNA5 mutation, as the patient III-9 who suffered from chronic suppurative otitis media in the left ear clearly demonstrated a different severity of hearing loss for both ears, while the other seven patients without ear disease exhibited a symmetric hearing loss [Figure 2].
Until date, a total of six deafness-causing mutations in the DFNA5 gene have been reported in nine families [Table 2].
The molecular pathogenic mechanism of NSHL associated with DFNA5 mutations remains unclear.