Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3
Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular inv...
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| Veröffentlicht in: | Audiology & neurotology 2009-01, Vol.14 (5), p.303-307 |
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| container_title | Audiology & neurotology |
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| creator | van Drunen, F.J. Wendy Pauw, Robert J. Collin, Rob W.J. Kremer, Hannie Huygen, Patrick L.M. Cremers, Cor W.R.J. |
| description | Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular involvement appeared to be present in 2 affected individuals according to their medical history. Vestibular examination results in an extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia. DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment. |
| doi_str_mv | 10.1159/000212109 |
| format | Article |
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Wendy ; Pauw, Robert J. ; Collin, Rob W.J. ; Kremer, Hannie ; Huygen, Patrick L.M. ; Cremers, Cor W.R.J.</creator><creatorcontrib>van Drunen, F.J. Wendy ; Pauw, Robert J. ; Collin, Rob W.J. ; Kremer, Hannie ; Huygen, Patrick L.M. ; Cremers, Cor W.R.J.</creatorcontrib><description>Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular involvement appeared to be present in 2 affected individuals according to their medical history. Vestibular examination results in an extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia. DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment.</description><identifier>ISSN: 1420-3030</identifier><identifier>EISSN: 1421-9700</identifier><identifier>DOI: 10.1159/000212109</identifier><identifier>PMID: 19372648</identifier><language>eng</language><publisher>Basel, Switzerland: Karger</publisher><subject>Adolescent ; Adult ; Aged ; Biological and medical sciences ; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology ; Family Health ; Female ; Genes, Dominant ; Hearing loss ; Hearing Loss - genetics ; Homeodomain Proteins - genetics ; Humans ; Male ; Medical sciences ; Middle Aged ; Mutation ; Netherlands ; Non tumoral diseases ; Nystagmus, Optokinetic ; Original Paper ; Otology ; Otorhinolaryngology. Stomatology ; Pedigree ; Point Mutation ; Pursuit, Smooth ; Reflex, Abnormal ; Reflex, Vestibulo-Ocular ; Saccades ; Transcription Factor Brn-3C - genetics ; Vestibular Diseases - genetics ; Vestibular Diseases - physiopathology</subject><ispartof>Audiology & neurotology, 2009-01, Vol.14 (5), p.303-307</ispartof><rights>2009 S. Karger AG, Basel</rights><rights>2009 INIST-CNRS</rights><rights>Copyright (C) 2009 S. Karger AG, Basel.</rights><rights>Copyright (c) 2009 S. 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Wendy</creatorcontrib><creatorcontrib>Pauw, Robert J.</creatorcontrib><creatorcontrib>Collin, Rob W.J.</creatorcontrib><creatorcontrib>Kremer, Hannie</creatorcontrib><creatorcontrib>Huygen, Patrick L.M.</creatorcontrib><creatorcontrib>Cremers, Cor W.R.J.</creatorcontrib><title>Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3</title><title>Audiology & neurotology</title><addtitle>Audiol Neurotol</addtitle><description>Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular involvement appeared to be present in 2 affected individuals according to their medical history. Vestibular examination results in an extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia. DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Biological and medical sciences</subject><subject>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</subject><subject>Family Health</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Hearing loss</subject><subject>Hearing Loss - genetics</subject><subject>Homeodomain Proteins - genetics</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Netherlands</subject><subject>Non tumoral diseases</subject><subject>Nystagmus, Optokinetic</subject><subject>Original Paper</subject><subject>Otology</subject><subject>Otorhinolaryngology. 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Wendy ; Pauw, Robert J. ; Collin, Rob W.J. ; Kremer, Hannie ; Huygen, Patrick L.M. ; Cremers, Cor W.R.J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c361t-2913cd05d0caf592473f04013eeaa48e36a01d41924e69b11376303a2c0aa6f33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2009</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Biological and medical sciences</topic><topic>Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology</topic><topic>Family Health</topic><topic>Female</topic><topic>Genes, Dominant</topic><topic>Hearing loss</topic><topic>Hearing Loss - genetics</topic><topic>Homeodomain Proteins - genetics</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Netherlands</topic><topic>Non tumoral diseases</topic><topic>Nystagmus, Optokinetic</topic><topic>Original Paper</topic><topic>Otology</topic><topic>Otorhinolaryngology. Stomatology</topic><topic>Pedigree</topic><topic>Point Mutation</topic><topic>Pursuit, Smooth</topic><topic>Reflex, Abnormal</topic><topic>Reflex, Vestibulo-Ocular</topic><topic>Saccades</topic><topic>Transcription Factor Brn-3C - genetics</topic><topic>Vestibular Diseases - genetics</topic><topic>Vestibular Diseases - physiopathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>van Drunen, F.J. Wendy</creatorcontrib><creatorcontrib>Pauw, Robert J.</creatorcontrib><creatorcontrib>Collin, Rob W.J.</creatorcontrib><creatorcontrib>Kremer, Hannie</creatorcontrib><creatorcontrib>Huygen, Patrick L.M.</creatorcontrib><creatorcontrib>Cremers, Cor W.R.J.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Nursing & Allied Health Database</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Psychology Database</collection><collection>Nursing & Allied Health Premium</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Audiology & neurotology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>van Drunen, F.J. Wendy</au><au>Pauw, Robert J.</au><au>Collin, Rob W.J.</au><au>Kremer, Hannie</au><au>Huygen, Patrick L.M.</au><au>Cremers, Cor W.R.J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3</atitle><jtitle>Audiology & neurotology</jtitle><addtitle>Audiol Neurotol</addtitle><date>2009-01-01</date><risdate>2009</risdate><volume>14</volume><issue>5</issue><spage>303</spage><epage>307</epage><pages>303-307</pages><issn>1420-3030</issn><eissn>1421-9700</eissn><abstract>Vestibular examination (electronystagmography with rotatory chair and caloric tests) was performed on 18 carriers and 1 phenocopy carrier in a Dutch family with autosomal dominant nonsyndromic DFNA15. This is the second DFNA15 family worldwide to have a novel L289F mutation in POU4F3. Vestibular involvement appeared to be present in 2 affected individuals according to their medical history. Vestibular examination results in an extended subset of L289F POU4F3 mutation carriers varied from normal to areflexia. DFNA15 is the third cochleovestibular disorder, after DFNA9 and DFNA11, in the autosomal dominant nonsyndromic hearing impairment.</abstract><cop>Basel, Switzerland</cop><pub>Karger</pub><pmid>19372648</pmid><doi>10.1159/000212109</doi><tpages>5</tpages></addata></record> |
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| ispartof | Audiology & neurotology, 2009-01, Vol.14 (5), p.303-307 |
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| source | MEDLINE; Karger Journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Aged Biological and medical sciences Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology Family Health Female Genes, Dominant Hearing loss Hearing Loss - genetics Homeodomain Proteins - genetics Humans Male Medical sciences Middle Aged Mutation Netherlands Non tumoral diseases Nystagmus, Optokinetic Original Paper Otology Otorhinolaryngology. Stomatology Pedigree Point Mutation Pursuit, Smooth Reflex, Abnormal Reflex, Vestibulo-Ocular Saccades Transcription Factor Brn-3C - genetics Vestibular Diseases - genetics Vestibular Diseases - physiopathology |
| title | Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3 |
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