Autosomal Dominant 6 Deafness

mutation in WFS1

Also Known As:

Deafness, Autosomal Dominant 6; DFNA14; DFNA38; DFNA6; Deafness, Autosomal Dominant 14; Deafness, Autosomal Dominant 38

Networked: 4 relevant articles (0 outcomes, 1 trials/studies)

1.	Hearing Loss (Hearing Impairment)
2.	Wolfram Syndrome (Syndrome, Wolfram)
3.	Autosomal Dominant 6 Deafness
4.	Optic Atrophy
5.	Diabetes Mellitus

Drugs and Important Biological Agents (IBA) related to Autosomal Dominant 6 Deafness:

1.	TungstenIBA 01/01/2018 - "In the present study, WFS1 variants were screened in a large series of Japanese hearing loss (HL) patients to clarify the prevalence and clinical characteristics of DFNA6/14/38 and Wolfram-like syndrome. " 01/01/2018 - "A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. " 11/01/2023 - "Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. "
2.	Genetic Markers (Genetic Marker)IBA 08/01/2001 - "After exclusion of linkage to DFNA1 on chromosome 5, we mapped the candidate gene region to the DFNA14 and DFNA6 loci, between the genetic markers D4S432 and D4S431, located on chromosome 4. This is a further family in which evident linkage of low-mid frequency HI to the candidate region on chromosome 4p16.3 has been found."
3.	DNA (Deoxyribonucleic Acid)IBA 11/01/2004 - "Using genomic DNA, DFNA1 and DFNA6/14/38 were excluded by linkage analysis or by direct sequencing of the responsible gene. "

1.	Cochlear Implantation 11/01/2023 - "Furthermore, we present cochlear implantation (CI) outcomes in WFS1-associated DFNA6/14/38 and suggest a genotype-phenotype correlation based on our results and a systematic review. "