Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.
Identifieur interne : 000528 ( Main/Exploration ); précédent : 000527; suivant : 000529Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.
Auteurs : Kentaro Mori [Japon] ; Ikuyo Miyanohara [Japon] ; Hideaki Moteki [Japon] ; Shin-Ya Nishio [Japon] ; Yuichi Kurono [Japon] ; Shin-Ichi Usami [Japon]Source :
- The Annals of otology, rhinology, and laryngology [ 0003-4894 ] ; 2015.
Descripteurs français
- KwdFr :
- Adulte (MeSH), Analyse de mutations d'ADN (MeSH), Femelle (MeSH), Glutarédoxines (génétique), Humains (MeSH), Maladies vestibulaires (génétique), Mâle (MeSH), Pedigree (MeSH), Population d'origine asiatique (génétique), Sensation vertigineuse (génétique), Surdité (génétique), Surdité neurosensorielle (génétique), Évolution de la maladie (MeSH).
- MESH :
English descriptors
- KwdEn :
- Adult (MeSH), Asian Continental Ancestry Group (genetics), DNA Mutational Analysis (MeSH), Deafness (genetics), Disease Progression (MeSH), Dizziness (genetics), Female (MeSH), Glutaredoxins (genetics), Hearing Loss, Sensorineural (genetics), Humans (MeSH), Male (MeSH), Pedigree (MeSH), Vestibular Diseases (genetics).
- MESH :
- chemical , genetics : Glutaredoxins.
- genetics : Asian Continental Ancestry Group, Deafness, Dizziness, Hearing Loss, Sensorineural, Vestibular Diseases.
- Adult, DNA Mutational Analysis, Disease Progression, Female, Humans, Male, Pedigree.
Abstract
OBJECTIVE
We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss.
METHODS
One thousand one hundred twenty Japanese hearing loss patients with sensorineural hearing loss from unrelated families were enrolled in this study. Targeted genomic enrichment with massively parallel sequencing of all known nonsyndromic hearing loss genes was used to identify the genetic causes of hearing loss.
RESULTS
In this study, 2 affected individuals with compound heterozygous mutations-c.439C>T (p.R147C) and c.784C>T (p.R262X)-in GRXCR1 were identified. The proband had moderate to severe hearing loss and suffered from dizziness with bilateral canal paralysis.
CONCLUSION
Our cases are the first identified in the Japanese population and are consistent with previously reported cases. The frequency of mutations in GRXCR1 seems to be extremely rare. This study underscores the importance of using comprehensive genetic testing for hearing loss. Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.
DOI: 10.1177/0003489415575061
PubMed: 25802247
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
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sortKey="Nishio, Shin Ya" sort="Nishio, Shin Ya" uniqKey="Nishio S" first="Shin-Ya" last="Nishio">Shin-Ya Nishio</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto</wicri:regionArea><wicri:noRegion>Matsumoto</wicri:noRegion></affiliation></author><author><name sortKey="Kurono, Yuichi" sort="Kurono, Yuichi" uniqKey="Kurono Y" first="Yuichi" last="Kurono">Yuichi Kurono</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, 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Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto</wicri:regionArea><wicri:noRegion>Matsumoto</wicri:noRegion></affiliation></author><author><name sortKey="Miyanohara, Ikuyo" sort="Miyanohara, Ikuyo" uniqKey="Miyanohara I" first="Ikuyo" last="Miyanohara">Ikuyo Miyanohara</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima</wicri:regionArea><wicri:noRegion>Kagoshima</wicri:noRegion></affiliation></author><author><name sortKey="Moteki, Hideaki" sort="Moteki, Hideaki" uniqKey="Moteki H" first="Hideaki" last="Moteki">Hideaki Moteki</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto</wicri:regionArea><wicri:noRegion>Matsumoto</wicri:noRegion></affiliation></author><author><name sortKey="Nishio, Shin Ya" sort="Nishio, Shin Ya" uniqKey="Nishio S" first="Shin-Ya" last="Nishio">Shin-Ya Nishio</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto</wicri:regionArea><wicri:noRegion>Matsumoto</wicri:noRegion></affiliation></author><author><name sortKey="Kurono, Yuichi" sort="Kurono, Yuichi" uniqKey="Kurono Y" first="Yuichi" last="Kurono">Yuichi Kurono</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima</wicri:regionArea><wicri:noRegion>Kagoshima</wicri:noRegion></affiliation></author><author><name sortKey="Usami, Shin Ichi" sort="Usami, Shin Ichi" uniqKey="Usami S" first="Shin-Ichi" last="Usami">Shin-Ichi Usami</name><affiliation wicri:level="1"><nlm:affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.</nlm:affiliation><country wicri:rule="url">Japon</country><wicri:regionArea>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto</wicri:regionArea><wicri:noRegion>Matsumoto</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Annals of otology, rhinology, and laryngology</title><idno type="ISSN">0003-4894</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult (MeSH)</term><term>Asian Continental Ancestry Group (genetics)</term><term>DNA Mutational Analysis (MeSH)</term><term>Deafness (genetics)</term><term>Disease Progression (MeSH)</term><term>Dizziness (genetics)</term><term>Female (MeSH)</term><term>Glutaredoxins (genetics)</term><term>Hearing Loss, Sensorineural (genetics)</term><term>Humans (MeSH)</term><term>Male (MeSH)</term><term>Pedigree (MeSH)</term><term>Vestibular Diseases (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte (MeSH)</term><term>Analyse de mutations d'ADN (MeSH)</term><term>Femelle (MeSH)</term><term>Glutarédoxines (génétique)</term><term>Humains (MeSH)</term><term>Maladies vestibulaires (génétique)</term><term>Mâle (MeSH)</term><term>Pedigree (MeSH)</term><term>Population d'origine asiatique (génétique)</term><term>Sensation vertigineuse (génétique)</term><term>Surdité (génétique)</term><term>Surdité neurosensorielle (génétique)</term><term>Évolution de la maladie (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Glutaredoxins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Deafness</term><term>Dizziness</term><term>Hearing Loss, Sensorineural</term><term>Vestibular Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Glutarédoxines</term><term>Maladies vestibulaires</term><term>Population d'origine asiatique</term><term>Sensation vertigineuse</term><term>Surdité</term><term>Surdité neurosensorielle</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Disease Progression</term><term>Female</term><term>Humans</term><term>Male</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Pedigree</term><term>Évolution de la maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><b>OBJECTIVE</b></p><p>We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss.</p></div><div type="abstract" xml:lang="en"><p><b>METHODS</b></p><p>One thousand one hundred twenty Japanese hearing loss patients with sensorineural hearing loss from unrelated families were enrolled in this study. Targeted genomic enrichment with massively parallel sequencing of all known nonsyndromic hearing loss genes was used to identify the genetic causes of hearing loss.</p></div><div type="abstract" xml:lang="en"><p><b>RESULTS</b></p><p>In this study, 2 affected individuals with compound heterozygous mutations-c.439C>T (p.R147C) and c.784C>T (p.R262X)-in GRXCR1 were identified. The proband had moderate to severe hearing loss and suffered from dizziness with bilateral canal paralysis.</p></div><div type="abstract" xml:lang="en"><p><b>CONCLUSION</b></p><p>Our cases are the first identified in the Japanese population and are consistent with previously reported cases. The frequency of mutations in GRXCR1 seems to be extremely rare. This study underscores the importance of using comprehensive genetic testing for hearing loss. Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.</p></div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">25802247</PMID><DateCompleted><Year>2015</Year><Month>08</Month><Day>18</Day></DateCompleted><DateRevised><Year>2015</Year><Month>05</Month><Day>22</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">0003-4894</ISSN><JournalIssue CitedMedium="Print"><Volume>124 Suppl 1</Volume><PubDate><Year>2015</Year><Month>May</Month></PubDate></JournalIssue><Title>The Annals of otology, rhinology, and laryngology</Title><ISOAbbreviation>Ann Otol Rhinol Laryngol</ISOAbbreviation></Journal><ArticleTitle>Novel mutation in GRXCR1 at DFNB25 lead to progressive hearing loss and dizziness.</ArticleTitle><Pagination><MedlinePgn>129S-34S</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1177/0003489415575061</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">We identified 2 patients in 1 family who had novel mutations in GRXCR1, which caused progressive hearing loss.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">One thousand one hundred twenty Japanese hearing loss patients with sensorineural hearing loss from unrelated families were enrolled in this study. Targeted genomic enrichment with massively parallel sequencing of all known nonsyndromic hearing loss genes was used to identify the genetic causes of hearing loss.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">In this study, 2 affected individuals with compound heterozygous mutations-c.439C>T (p.R147C) and c.784C>T (p.R262X)-in GRXCR1 were identified. The proband had moderate to severe hearing loss and suffered from dizziness with bilateral canal paralysis.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Our cases are the first identified in the Japanese population and are consistent with previously reported cases. The frequency of mutations in GRXCR1 seems to be extremely rare. This study underscores the importance of using comprehensive genetic testing for hearing loss. Furthermore, longitudinal audiologic assessment and precise vestibular testing are necessary for a better understanding of the mechanisms of hearing loss and vestibular dysfunction caused by GRXCR1 mutations.</AbstractText><CopyrightInformation>© The Author(s) 2015.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mori</LastName><ForeName>Kentaro</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Miyanohara</LastName><ForeName>Ikuyo</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Moteki</LastName><ForeName>Hideaki</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Nishio</LastName><ForeName>Shin-Ya</ForeName><Initials>SY</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Kurono</LastName><ForeName>Yuichi</ForeName><Initials>Y</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology-Head and Neck Surgery, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Usami</LastName><ForeName>Shin-Ichi</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology, Shinshu University School of Medicine, Matsumoto, Japan Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan usami@shinshu-u.ac.jp.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>03</Month><Day>23</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Ann Otol Rhinol Laryngol</MedlineTA><NlmUniqueID>0407300</NlmUniqueID><ISSNLinking>0003-4894</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C547810">GRXCR1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D054477">Glutaredoxins</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C580334">Nonsyndromic Deafness</SupplMeshName></SupplMeshList><CitationSubset>AIM</CitationSubset><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D044466" MajorTopicYN="N">Asian Continental Ancestry Group</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational 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MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D015837" MajorTopicYN="N">Vestibular Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">GRXCR1</Keyword><Keyword MajorTopicYN="N">dizziness</Keyword><Keyword MajorTopicYN="N">genetics</Keyword><Keyword MajorTopicYN="N">hearing loss</Keyword><Keyword MajorTopicYN="N">massively parallel sequencing</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>3</Month><Day>25</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate 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sortKey="Moteki, Hideaki" sort="Moteki, Hideaki" uniqKey="Moteki H" first="Hideaki" last="Moteki">Hideaki Moteki</name><name sortKey="Nishio, Shin Ya" sort="Nishio, Shin Ya" uniqKey="Nishio S" first="Shin-Ya" last="Nishio">Shin-Ya Nishio</name><name sortKey="Usami, Shin Ichi" sort="Usami, Shin Ichi" uniqKey="Usami S" first="Shin-Ichi" last="Usami">Shin-Ichi Usami</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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