Journal article
Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WTS1
Michael S Hildebrand, Jessica L Sorensen, Maren Jensen, Willam J Kimberling, Richard JH Stnith
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | WILEY-LISS | Published : 2008
DOI: 10.1002/ajmg.a.32449
Abstract
Most familial cases of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attributable to mutations in the wolframin syndrome 1 (WFS1) gene at the DFNA6/14/38 locus. WFS1 mutations at this locus were first described in 2001 in six families segregating LFSNHL that was non-progressive below 2,000 Hz; the causative mutations all clustered in the C-terminal domain of the wolframin protein. Mutations in WFS1 also cause Wolfram syndrome (WS), an autosomal recessive neurodegenerative disorder defined by diabetes mellitus, optic atrophy and often deafness, while numerous single nucleotide polymorphisms (SNPs) in WFS1 have been associated with increased risk for diabetes mellitu..
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Awarded by National Institutes of Health (NIH)-National Institute on Deafness and Other Communication Disorders (NIDCD)
Awarded by National institutes of Health (NIH)National Institute of Dental and Craniofacial Research (NIDCR)
Funding Acknowledgements
The authors sincerely thank the family for their participation in this study. R.J.H. Smith is the Sterba Hearing Research Professor, University of Iowa College of Medicine, who supported the project with National Institutes of Health (NIH)-National Institute on Deafness and Other Communication Disorders (NIDCD) grant RO1 DCOO3544-09. W.J. Kimberling is Director of the National Center for the Study and Treatment of Usher Syndrome, Boystown National Research Hospital, who supported the project with National institutes of Health (NIH)National Institute of Dental and Craniofacial Research (NIDCR) grant R01 DE014090-04. No researchers involved in this study report a conflict of interest.