MovDisordV3, PubMed, Checkpoint, bibRecord, 000F91

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

Identifieur interne : 000F91 ( PubMed/Checkpoint ); précédent : 000F90; suivant : 000F92

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

Auteurs : Robert A. Wilcox [Australie] ; Susen Winkler ; Katja Lohmann ; Christine Klein

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2011.

RBID : pubmed:21956287

Descripteurs français

Wicri :
- geographic : Australie.

English descriptors

KwdEn :
- Adult, Age of Onset, Aged, Australia (epidemiology), 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), Pedigree, Severity of Illness Index, Voice Disorders (congenital), Voice Disorders (epidemiology), Voice Disorders (genetics), Voice Disorders (physiopathology), Young Adult.
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.

DOI: 10.1002/mds.23866
PubMed: 21956287

Affiliations:

Australie

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Le document en format XML

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<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A" last="Wilcox">Robert A. Wilcox</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurology Department, Flinders Medical Centre, Adelaide, SA, Australia. robert.wilcox@health.sa.gov.au</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Neurology Department, Flinders Medical Centre, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
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<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
</author>
<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.</title>
<author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A" last="Wilcox">Robert A. Wilcox</name>
<affiliation wicri:level="1"><nlm:affiliation>Neurology Department, Flinders Medical Centre, Adelaide, SA, Australia. robert.wilcox@health.sa.gov.au</nlm:affiliation>
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<author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name>
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<author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name>
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<author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term>
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<term>Aged</term>
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<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>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>Young Adult</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>
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<keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Dystonia Musculorum Deformans</term>
<term>Voice Disorders</term>
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<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>
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<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.</div>
</front>
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<ArticleTitle>Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>Copyright © 2011 Movement Disorder Society.</CopyrightInformation>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Wilcox</LastName>
<ForeName>Robert A</ForeName>
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<AffiliationInfo><Affiliation>Neurology Department, Flinders Medical Centre, Adelaide, SA, Australia. robert.wilcox@health.sa.gov.au</Affiliation>
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<Author ValidYN="Y"><LastName>Winkler</LastName>
<ForeName>Susen</ForeName>
<Initials>S</Initials>
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<Author ValidYN="Y"><LastName>Lohmann</LastName>
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<Author ValidYN="Y"><LastName>Klein</LastName>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

Whispering dysphonia in an Australian family (DYT4): a clinical and genetic reappraisal.

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki