Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
Identifieur interne : 001273 ( Main/Exploration ); précédent : 001272; suivant : 001274Whispering dysphonia in an Australian family (DYT4): A clinical and genetic reappraisal
Auteurs : Robert A. Wilcox [Australie] ; Susen Winkler [Allemagne] ; Katja Lohmann [Allemagne] ; Christine Klein [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2011-11.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Adult, Age of Onset, Aged, Australia (epidemiology), Copper, DYT4, Dysphonia, Dystonia, Dystonia Musculorum Deformans (epidemiology), Dystonia Musculorum Deformans (genetics), Dystonia Musculorum Deformans (physiopathology), Female, Genetic Linkage, Genetic Loci (genetics), Genetic Markers, Humans, Male, Middle Aged, Mutation (genetics), Nervous system diseases, Pedigree, Severity of Illness Index, Voice Disorders (congenital), Voice Disorders (epidemiology), Voice Disorders (genetics), Voice Disorders (physiopathology), Wilson disease, Young Adult, dystonia, whispering dysphonia.
- MESH :
- chemical : Genetic Markers.
- geographic , epidemiology : Australia.
- congenital : Voice Disorders.
- epidemiology : Dystonia Musculorum Deformans, Voice Disorders.
- genetics : Dystonia Musculorum Deformans, Genetic Loci, Mutation, Voice Disorders.
- physiopathology : Dystonia Musculorum Deformans, Voice Disorders.
- Adult, Age of Onset, Aged, Female, Genetic Linkage, Humans, Male, Middle Aged, Pedigree, Severity of Illness Index, Young Adult.
Abstract
The designation, DYT4, was assigned to an Australian family with whispering dysphonia. The role of known causes of dystonia has not been comprehensively investigated in this family, nor has the possible relationship with Wilson disease (WND) in 2 siblings. Eighteen family members were neurologically examined, and DNA samples were obtained. Linkage analysis was performed to DYT1, DYT6, DYT7, DYT11, DYT13, DYT15, and ATP7B with microsatellite markers and the THAP1 (DYT6), PRKRA (DYT16), and ATP7B (WND) genes were sequenced. Reevaluation of the family identified 9 living affected family members, 6 of whom are newly affected. Phenotypic expression was variable, ranging from isolated spasmodic dysphonia (often with mild craniocervical dystonia) to severe generalized dystonia. Two newly described features included an extrusional tongue dystonia and a unique “hobby horse gait.” Genetic analyses excluded all tested loci. Haplotype analysis of the ATP7B region resulted in three different combinations of the two parental alleles in the 8 investigated siblings of the 2 deceased WND patients, indicating that the fourth combination (of two mutated alleles) had occurred only in the deceased WND patients. On these two alleles, we identified a missense (c.2297C>G; p.T766R) and a splice‐site mutation (IVS5+1G>T). The c.2297C>G mutation was detected in 3 affected and 4 unaffected family members, whereas the IVS5+1G>T mutation was detected in 1 affected and unaffected family member. Five DYT4 patients carried neither mutation. DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci. ATP7B mutations do not segregate with the dystonia phenotype, indicating two independent genetic diseases in this family. © 2011 Movement Disorder Society
Url:
DOI: 10.1002/mds.23866
Affiliations:
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2011-11">2011-11</date><biblScope unit="vol">26</biblScope><biblScope unit="issue">13</biblScope><biblScope unit="page" from="2404">2404</biblScope><biblScope unit="page" to="2408">2408</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0C955CE9AC9F70509013352F354A2F8874D9B7FE</idno><idno type="DOI">10.1002/mds.23866</idno><idno type="ArticleID">MDS23866</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Australia (epidemiology)</term><term>Copper</term><term>DYT4</term><term>Dysphonia</term><term>Dystonia</term><term>Dystonia Musculorum Deformans (epidemiology)</term><term>Dystonia Musculorum Deformans (genetics)</term><term>Dystonia Musculorum Deformans (physiopathology)</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Loci (genetics)</term><term>Genetic Markers</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Pedigree</term><term>Severity of Illness Index</term><term>Voice Disorders (congenital)</term><term>Voice Disorders (epidemiology)</term><term>Voice Disorders (genetics)</term><term>Voice Disorders (physiopathology)</term><term>Wilson disease</term><term>Young Adult</term><term>dystonia</term><term>whispering dysphonia</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Genetic Markers</term></keywords><keywords scheme="MESH" type="geographic" qualifier="epidemiology" xml:lang="en"><term>Australia</term></keywords><keywords scheme="MESH" qualifier="congenital" xml:lang="en"><term>Voice Disorders</term></keywords><keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Voice Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Genetic Loci</term><term>Mutation</term><term>Voice Disorders</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia Musculorum Deformans</term><term>Voice Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Age of Onset</term><term>Aged</term><term>Female</term><term>Genetic Linkage</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Severity of Illness Index</term><term>Young Adult</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Cuivre</term><term>Dysphonie</term><term>Dystonie</term><term>Maladie de Wilson</term><term>Pathologie du système nerveux</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Australie</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Cuivre</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The designation, DYT4, was assigned to an Australian family with whispering dysphonia. The role of known causes of dystonia has not been comprehensively investigated in this family, nor has the possible relationship with Wilson disease (WND) in 2 siblings. Eighteen family members were neurologically examined, and DNA samples were obtained. Linkage analysis was performed to DYT1, DYT6, DYT7, DYT11, DYT13, DYT15, and ATP7B with microsatellite markers and the THAP1 (DYT6), PRKRA (DYT16), and ATP7B (WND) genes were sequenced. Reevaluation of the family identified 9 living affected family members, 6 of whom are newly affected. Phenotypic expression was variable, ranging from isolated spasmodic dysphonia (often with mild craniocervical dystonia) to severe generalized dystonia. Two newly described features included an extrusional tongue dystonia and a unique “hobby horse gait.” Genetic analyses excluded all tested loci. Haplotype analysis of the ATP7B region resulted in three different combinations of the two parental alleles in the 8 investigated siblings of the 2 deceased WND patients, indicating that the fourth combination (of two mutated alleles) had occurred only in the deceased WND patients. On these two alleles, we identified a missense (c.2297C>G; p.T766R) and a splice‐site mutation (IVS5+1G>T). The c.2297C>G mutation was detected in 3 affected and 4 unaffected family members, whereas the IVS5+1G>T mutation was detected in 1 affected and unaffected family member. Five DYT4 patients carried neither mutation. DYT4 is a familial form of dystonia unrelated to known dystonia genes and loci. ATP7B mutations do not segregate with the dystonia phenotype, indicating two independent genetic diseases in this family. © 2011 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li></country></list><tree><country name="Australie"><noRegion><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name></noRegion></country><country name="Allemagne"><noRegion><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name></noRegion><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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