Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1 , the gene for recessively inherited Wolfram syndrome. Wolfram syndrome is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss and other neurolog...
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2001
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fthighwire:oai:open-archive.highwire.org:hmg:10/22/2509 2023-05-15T17:22:31+02:00 Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 Young, Terry-Lynn Ives, Elizabeth Lynch, Eric Person, Richard Snook, Stephanie MacLaren, Linda Cator, Tracey Griffin, Anne Fernandez, Bridget Lee, Ming K. King, Mary-Claire 2001-10-01 00:00:00.0 text/html http://hmg.oxfordjournals.org/cgi/content/short/10/22/2509 https://doi.org/10.1093/hmg/10.22.2509 en eng Oxford University Press http://hmg.oxfordjournals.org/cgi/content/short/10/22/2509 http://dx.doi.org/10.1093/hmg/10.22.2509 Copyright (C) 2001, Oxford University Press REPORTS TEXT 2001 fthighwire https://doi.org/10.1093/hmg/10.22.2509 2013-05-27T16:15:00Z Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1 , the gene for recessively inherited Wolfram syndrome. Wolfram syndrome is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss and other neurological symptoms. Heterozygotes for other Wolfram syndrome mutations generally have normal hearing. Dominant deafness defined by DFNA38 is more severe than deafness of Wolfram syndrome patients and lacks any syndromic features. In a six-generation kindred from Newfoundland, Canada, WFS1 Ala716Thr (2146 G→A) was shared by all deaf members of the family and was specific to deaf individuals. The causal relationship between this missense mutation and deafness was supported by two observations based on haplotype and mutation analysis of the kindred. First, a relative homozygous for the mutation was diagnosed at age 3 years with insulin-dependent diabetes mellitus, the central feature of Wolfram syndrome. Second, two relatives with normal hearing had an identical haplotype to that defining DFNA38 , with the exception of the base pair at position 2146. Other rare variants of WFS1 co-inherited with deafness in the family could be excluded as disease-causing mutations on the basis of this hearing-associated haplotype. The possibility that ‘mild’ mutations in WFS1 might be a cause of non-syndromic deafness in the general population should be explored. Text Newfoundland HighWire Press (Stanford University) Canada Human Molecular Genetics 10 22 2509 2514 |
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REPORTS Young, Terry-Lynn Ives, Elizabeth Lynch, Eric Person, Richard Snook, Stephanie MacLaren, Linda Cator, Tracey Griffin, Anne Fernandez, Bridget Lee, Ming K. King, Mary-Claire Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 |
topic_facet |
REPORTS |
description |
Dominantly inherited progressive hearing loss DFNA38 is caused by heterozygosity for a novel mutation in WFS1 , the gene for recessively inherited Wolfram syndrome. Wolfram syndrome is defined by juvenile diabetes mellitus and optic atrophy and may include progressive hearing loss and other neurological symptoms. Heterozygotes for other Wolfram syndrome mutations generally have normal hearing. Dominant deafness defined by DFNA38 is more severe than deafness of Wolfram syndrome patients and lacks any syndromic features. In a six-generation kindred from Newfoundland, Canada, WFS1 Ala716Thr (2146 G→A) was shared by all deaf members of the family and was specific to deaf individuals. The causal relationship between this missense mutation and deafness was supported by two observations based on haplotype and mutation analysis of the kindred. First, a relative homozygous for the mutation was diagnosed at age 3 years with insulin-dependent diabetes mellitus, the central feature of Wolfram syndrome. Second, two relatives with normal hearing had an identical haplotype to that defining DFNA38 , with the exception of the base pair at position 2146. Other rare variants of WFS1 co-inherited with deafness in the family could be excluded as disease-causing mutations on the basis of this hearing-associated haplotype. The possibility that ‘mild’ mutations in WFS1 might be a cause of non-syndromic deafness in the general population should be explored. |
format |
Text |
author |
Young, Terry-Lynn Ives, Elizabeth Lynch, Eric Person, Richard Snook, Stephanie MacLaren, Linda Cator, Tracey Griffin, Anne Fernandez, Bridget Lee, Ming K. King, Mary-Claire |
author_facet |
Young, Terry-Lynn Ives, Elizabeth Lynch, Eric Person, Richard Snook, Stephanie MacLaren, Linda Cator, Tracey Griffin, Anne Fernandez, Bridget Lee, Ming K. King, Mary-Claire |
author_sort |
Young, Terry-Lynn |
title |
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 |
title_short |
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 |
title_full |
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 |
title_fullStr |
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 |
title_full_unstemmed |
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 |
title_sort |
non-syndromic progressive hearing loss dfna38 is caused by heterozygous missense mutation in the wolfram syndrome gene wfs1 |
publisher |
Oxford University Press |
publishDate |
2001 |
url |
http://hmg.oxfordjournals.org/cgi/content/short/10/22/2509 https://doi.org/10.1093/hmg/10.22.2509 |
geographic |
Canada |
geographic_facet |
Canada |
genre |
Newfoundland |
genre_facet |
Newfoundland |
op_relation |
http://hmg.oxfordjournals.org/cgi/content/short/10/22/2509 http://dx.doi.org/10.1093/hmg/10.22.2509 |
op_rights |
Copyright (C) 2001, Oxford University Press |
op_doi |
https://doi.org/10.1093/hmg/10.22.2509 |
container_title |
Human Molecular Genetics |
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10 |
container_issue |
22 |
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2509 |
op_container_end_page |
2514 |
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1766109226228252672 |