Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
Identifieur interne : 001798 ( PubMed/Corpus ); précédent : 001797; suivant : 001799Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.
Auteurs : I. Todt ; H C Hennies ; W. Küster ; J. Smolle ; G. Rademacher ; S. Mutze ; D. Basta ; A. Eisenschenk ; A. ErnstSource :
- Audiology & neuro-otology [ 1420-3030 ] ; 2006.
English descriptors
- KwdEn :
- Adult, Child, Connexins (genetics), Deafness (genetics), Deafness (pathology), Deafness (physiopathology), Female, Hearing Loss, Sensorineural (genetics), Hearing Loss, Sensorineural (physiopathology), Humans, Ichthyosis (genetics), Ichthyosis (pathology), Ichthyosis (physiopathology), Keratitis (genetics), Keratitis (pathology), Keratitis (physiopathology), Male, Middle Aged, Mutation (genetics), Syndrome, Tomography, X-Ray Computed, Vestibule, Labyrinth (pathology), Vestibule, Labyrinth (physiopathology).
- MESH :
- chemical , genetics : Connexins.
- genetics : Deafness, Hearing Loss, Sensorineural, Ichthyosis, Keratitis, Mutation.
- pathology : Deafness, Ichthyosis, Keratitis, Vestibule, Labyrinth.
- physiopathology : Deafness, Hearing Loss, Sensorineural, Ichthyosis, Keratitis, Vestibule, Labyrinth.
- Adult, Child, Female, Humans, Male, Middle Aged, Syndrome, Tomography, X-Ray Computed.
Abstract
The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.
DOI: 10.1159/000093110
PubMed: 16679758
Links to Exploration step
pubmed:16679758Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.</title><author><name sortKey="Todt, I" sort="Todt, I" uniqKey="Todt I" first="I" last="Todt">I. Todt</name><affiliation><nlm:affiliation>Department of Otolaryngology, Hospital of the University of Berlin (Charité Medical School), Berlin, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Hennies, H C" sort="Hennies, H C" uniqKey="Hennies H" first="H C" last="Hennies">H C Hennies</name></author><author><name sortKey="Kuster, W" sort="Kuster, W" uniqKey="Kuster W" first="W" last="Küster">W. Küster</name></author><author><name sortKey="Smolle, J" sort="Smolle, J" uniqKey="Smolle J" first="J" last="Smolle">J. Smolle</name></author><author><name sortKey="Rademacher, G" sort="Rademacher, G" uniqKey="Rademacher G" first="G" last="Rademacher">G. Rademacher</name></author><author><name sortKey="Mutze, S" sort="Mutze, S" uniqKey="Mutze S" first="S" last="Mutze">S. Mutze</name></author><author><name sortKey="Basta, D" sort="Basta, D" uniqKey="Basta D" first="D" last="Basta">D. Basta</name></author><author><name sortKey="Eisenschenk, A" sort="Eisenschenk, A" uniqKey="Eisenschenk A" first="A" last="Eisenschenk">A. Eisenschenk</name></author><author><name sortKey="Ernst, A" sort="Ernst, A" uniqKey="Ernst A" first="A" last="Ernst">A. Ernst</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2006">2006</date><idno type="doi">10.1159/000093110</idno><idno type="RBID">pubmed:16679758</idno><idno type="pmid">16679758</idno><idno type="wicri:Area/PubMed/Corpus">001798</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.</title><author><name sortKey="Todt, I" sort="Todt, I" uniqKey="Todt I" first="I" last="Todt">I. Todt</name><affiliation><nlm:affiliation>Department of Otolaryngology, Hospital of the University of Berlin (Charité Medical School), Berlin, Germany.</nlm:affiliation></affiliation></author><author><name sortKey="Hennies, H C" sort="Hennies, H C" uniqKey="Hennies H" first="H C" last="Hennies">H C Hennies</name></author><author><name sortKey="Kuster, W" sort="Kuster, W" uniqKey="Kuster W" first="W" last="Küster">W. Küster</name></author><author><name sortKey="Smolle, J" sort="Smolle, J" uniqKey="Smolle J" first="J" last="Smolle">J. Smolle</name></author><author><name sortKey="Rademacher, G" sort="Rademacher, G" uniqKey="Rademacher G" first="G" last="Rademacher">G. Rademacher</name></author><author><name sortKey="Mutze, S" sort="Mutze, S" uniqKey="Mutze S" first="S" last="Mutze">S. Mutze</name></author><author><name sortKey="Basta, D" sort="Basta, D" uniqKey="Basta D" first="D" last="Basta">D. Basta</name></author><author><name sortKey="Eisenschenk, A" sort="Eisenschenk, A" uniqKey="Eisenschenk A" first="A" last="Eisenschenk">A. Eisenschenk</name></author><author><name sortKey="Ernst, A" sort="Ernst, A" uniqKey="Ernst A" first="A" last="Ernst">A. Ernst</name></author></analytic><series><title level="j">Audiology & neuro-otology</title><idno type="ISSN">1420-3030</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Child</term><term>Connexins (genetics)</term><term>Deafness (genetics)</term><term>Deafness (pathology)</term><term>Deafness (physiopathology)</term><term>Female</term><term>Hearing Loss, Sensorineural (genetics)</term><term>Hearing Loss, Sensorineural (physiopathology)</term><term>Humans</term><term>Ichthyosis (genetics)</term><term>Ichthyosis (pathology)</term><term>Ichthyosis (physiopathology)</term><term>Keratitis (genetics)</term><term>Keratitis (pathology)</term><term>Keratitis (physiopathology)</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Syndrome</term><term>Tomography, X-Ray Computed</term><term>Vestibule, Labyrinth (pathology)</term><term>Vestibule, Labyrinth (physiopathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Connexins</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Deafness</term><term>Hearing Loss, Sensorineural</term><term>Ichthyosis</term><term>Keratitis</term><term>Mutation</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Deafness</term><term>Ichthyosis</term><term>Keratitis</term><term>Vestibule, Labyrinth</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Deafness</term><term>Hearing Loss, Sensorineural</term><term>Ichthyosis</term><term>Keratitis</term><term>Vestibule, Labyrinth</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Syndrome</term><term>Tomography, X-Ray Computed</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">16679758</PMID><DateCreated><Year>2006</Year><Month>06</Month><Day>12</Day></DateCreated><DateCompleted><Year>2006</Year><Month>07</Month><Day>17</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1420-3030</ISSN><JournalIssue CitedMedium="Print"><Volume>11</Volume><Issue>4</Issue><PubDate><Year>2006</Year></PubDate></JournalIssue><Title>Audiology & neuro-otology</Title><ISOAbbreviation>Audiol. Neurootol.</ISOAbbreviation></Journal><ArticleTitle>Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome.</ArticleTitle><Pagination><MedlinePgn>242-8</MedlinePgn></Pagination><Abstract><AbstractText>The phenotype of the HID (hystrix-like ichthyosis, deafness)/KID (keratitis, ichthyosis, deafness) syndrome is primarily characterized by skin changes. However, the connexin 26 (Cx 26) autosomal dominant mutation underlying this syndrome is of special neurotological interest. In the present paper, the clinical pattern, audiovestibular and neuroimaging findings and the detailed genetic analysis of 4 patients with identical HID/KID-associated mutation D50N of Cx 26 are reported. The audiological test results demonstrated profound sensorineural hearing loss in all of the patients. Neurotological testing revealed inconsistent abnormalities in dynamic posturography (sensory organization test), but the vestibular ocular reflex upon caloric irrigation was normal in all patients. Vestibular-evoked myogenic potential testing for otolith function (saccule) showed a regular response in 1 patient and pathologic responses in 3 patients, while subjective haptic vertical (utricular function) testing was normal in all of the patients. CCT showed an extended (in length), but very thin (in diameter) bony lining between the basal portion of the internal auditory canal and the vestibule in the 3 scanned patients. Our study provides evidence for functionally intact semicircular canals and normal utricular function in subjects with the autosomal dominant D50N mutation of Cx 26, in contrast to saccular function which was generally compromised and hearing loss which was profound.</AbstractText><CopyrightInformation>Copyright 2006 S. Karger AG, Basel.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Todt</LastName><ForeName>I</ForeName><Initials>I</Initials><AffiliationInfo><Affiliation>Department of Otolaryngology, Hospital of the University of Berlin (Charité Medical School), Berlin, Germany.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hennies</LastName><ForeName>H C</ForeName><Initials>HC</Initials></Author><Author ValidYN="Y"><LastName>Küster</LastName><ForeName>W</ForeName><Initials>W</Initials></Author><Author ValidYN="Y"><LastName>Smolle</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Rademacher</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Mutze</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Basta</LastName><ForeName>D</ForeName><Initials>D</Initials></Author><Author ValidYN="Y"><LastName>Eisenschenk</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ernst</LastName><ForeName>A</ForeName><Initials>A</Initials></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>2006</Year><Month>05</Month><Day>04</Day></ArticleDate></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Audiol Neurootol</MedlineTA><NlmUniqueID>9606930</NlmUniqueID><ISSNLinking>1420-3030</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017630">Connexins</NameOfSubstance></Chemical><Chemical><RegistryNumber>127120-53-0</RegistryNumber><NameOfSubstance UI="C082921">connexin 26</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017630">Connexins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D003638">Deafness</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006319">Hearing Loss, Sensorineural</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007057">Ichthyosis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D007634">Keratitis</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013577">Syndrome</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014057">Tomography, X-Ray Computed</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014722">Vestibule, Labyrinth</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2004</Year><Month>9</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2006</Year><Month>2</Month><Day>20</Day></PubMedPubDate><PubMedPubDate PubStatus="aheadofprint"><Year>2006</Year><Month>5</Month><Day>4</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>5</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>7</Month><Day>18</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>5</Month><Day>9</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pii">93110</ArticleId><ArticleId IdType="doi">10.1159/000093110</ArticleId><ArticleId IdType="pubmed">16679758</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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