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Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3

BACKGROUND: Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic, of which 50% can be attributed to the disorder DFNB1, caused by mutations i...

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Autores principales: Hoppman, Nicole, Aypar, Umut, Brodersen, Pamela, Brown, Neil, Wilson, Justin, Babovic-Vuksanovic, Dusica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671142/
https://www.ncbi.nlm.nih.gov/pubmed/23648117
http://dx.doi.org/10.1186/1755-8166-6-19
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author Hoppman, Nicole
Aypar, Umut
Brodersen, Pamela
Brown, Neil
Wilson, Justin
Babovic-Vuksanovic, Dusica
author_facet Hoppman, Nicole
Aypar, Umut
Brodersen, Pamela
Brown, Neil
Wilson, Justin
Babovic-Vuksanovic, Dusica
author_sort Hoppman, Nicole
collection PubMed
description BACKGROUND: Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic, of which 50% can be attributed to the disorder DFNB1, caused by mutations in GJB2 and GJB6. Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3. Females with DIS have only hearing loss and are fertile. Until recently this syndrome has only been described in three consanguineous families and 2 nonconsanguineous families. RESULTS: We recently indentified a patient with hearing loss and macrocephaly who was found to be homozygous for this deletion. Her nonconsanguineous parents are both carriers. We examined our database of patients tested by array CGH and determined that just over 1% of our patients are heterozygous for this deletion. If this number is representative of the general population, this implies a 1% carrier frequency and prevalence of DIS of 1 in 40,000 individuals. CONCLUSION: We propose that DIS is a greatly under-diagnosed cause of deafness and should be considered in children with hearing loss. Likewise, current molecular genetic testing panels for hearing loss in the United States should be expanded to include deletion/duplication analysis of this region.
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spelling pubmed-36711422013-06-05 Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3 Hoppman, Nicole Aypar, Umut Brodersen, Pamela Brown, Neil Wilson, Justin Babovic-Vuksanovic, Dusica Mol Cytogenet Research BACKGROUND: Hearing loss is the most common birth defect and the most prevalent sensorineural disorder in developed countries. More than 50% of prelingual deafness is genetic, most often autosomal recessive and nonsyndromic, of which 50% can be attributed to the disorder DFNB1, caused by mutations in GJB2 and GJB6. Sensorineural hearing loss and male infertility (Deafness-Infertility Syndrome; DIS) is a contiguous gene deletion syndrome resulting from homozygous deletion of the CATSPER2 and STRC genes on chromosome 15q15.3. Females with DIS have only hearing loss and are fertile. Until recently this syndrome has only been described in three consanguineous families and 2 nonconsanguineous families. RESULTS: We recently indentified a patient with hearing loss and macrocephaly who was found to be homozygous for this deletion. Her nonconsanguineous parents are both carriers. We examined our database of patients tested by array CGH and determined that just over 1% of our patients are heterozygous for this deletion. If this number is representative of the general population, this implies a 1% carrier frequency and prevalence of DIS of 1 in 40,000 individuals. CONCLUSION: We propose that DIS is a greatly under-diagnosed cause of deafness and should be considered in children with hearing loss. Likewise, current molecular genetic testing panels for hearing loss in the United States should be expanded to include deletion/duplication analysis of this region. BioMed Central 2013-05-06 /pmc/articles/PMC3671142/ /pubmed/23648117 http://dx.doi.org/10.1186/1755-8166-6-19 Text en Copyright © 2013 Hoppman et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research
Hoppman, Nicole
Aypar, Umut
Brodersen, Pamela
Brown, Neil
Wilson, Justin
Babovic-Vuksanovic, Dusica
Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
title Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
title_full Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
title_fullStr Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
title_full_unstemmed Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
title_short Genetic testing for hearing loss in the United States should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
title_sort genetic testing for hearing loss in the united states should include deletion/duplication analysis for the deafness/infertility locus at 15q15.3
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3671142/
https://www.ncbi.nlm.nih.gov/pubmed/23648117
http://dx.doi.org/10.1186/1755-8166-6-19
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