Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor‐1 mutation
Identifieur interne : 000284 ( France/Analysis ); précédent : 000283; suivant : 000285Psychosis, short stature in benign hereditary chorea: A novel thyroid transcription factor‐1 mutation
Auteurs : Amir Glik [Israël] ; Isabelle Vuillaume [France] ; David Devos [France] ; Rivka Inzelberg [Israël]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-09-15.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Chorea, Chorea (complications), Chorea (genetics), Codon, Terminator (genetics), DNA Mutational Analysis, Encephalon, Exons (genetics), Family Health, Growth retardation, Humans, Lung, Lung Diseases (etiology), Lung Diseases (genetics), Male, Mental Disorders (etiology), Mental Disorders (genetics), Mutation, Mutation (genetics), Nervous system diseases, Nuclear Proteins (genetics), Psychosis, TITF‐1, Thyroid gland, Transcription Factors (genetics), benign hereditary chorea, brain‐thyroid‐lung, chorea, thyroid.
- MESH :
- chemical , genetics : Codon, Terminator, Nuclear Proteins, Transcription Factors.
- complications : Chorea.
- etiology : Lung Diseases, Mental Disorders.
- genetics : Chorea, Exons, Lung Diseases, Mental Disorders, Mutation.
- Adult, DNA Mutational Analysis, Family Health, Humans, Male.
Abstract
Benign hereditary chorea (BHC) is a rare autosomal dominant nonprogressive movement disorder. In some cases the phenotype includes, besides choreoathetosis, thyroid dysfunction and pulmonary infections in infancy, as expressed by the name “Brain‐Thyroid‐Lung syndrome”. Mutations in the thyroid transcription factor‐1 (TITF‐1) gene have been identified in some BHC families. We present the phenotypic features of a family with chorea, hypothyroidism, and lung dysfunction. All affected individuals suffered from a nonprogressive chorea with infancy onset. All showed short stature and some webbed neck. One patient suffered from psychosis at the age of 27 years another from lung carcinoma. In all affected individuals, a novel mutation consisting of heterozygous C to A substitution at position 650 of the coding sequence of the TITF‐1 gene, exon 3 was detected, leading to a premature stop at codon 217 (S217X). We describe the unique phenotypic features and intrafamilial variability expressing this novel mutation. © 2008 Movement Disorder Society
Url:
DOI: 10.1002/mds.22215
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="2008-09-15">2008-09-15</date><biblScope unit="vol">23</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1744">1744</biblScope><biblScope unit="page" to="1747">1747</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">B52CE9F6B792B49F061185553FA56C5D35D63614</idno><idno type="DOI">10.1002/mds.22215</idno><idno type="ArticleID">MDS22215</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Chorea</term><term>Chorea (complications)</term><term>Chorea (genetics)</term><term>Codon, Terminator (genetics)</term><term>DNA Mutational Analysis</term><term>Encephalon</term><term>Exons (genetics)</term><term>Family Health</term><term>Growth retardation</term><term>Humans</term><term>Lung</term><term>Lung Diseases (etiology)</term><term>Lung Diseases (genetics)</term><term>Male</term><term>Mental Disorders (etiology)</term><term>Mental Disorders (genetics)</term><term>Mutation</term><term>Mutation (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>Psychosis</term><term>TITF‐1</term><term>Thyroid gland</term><term>Transcription Factors (genetics)</term><term>benign hereditary chorea</term><term>brain‐thyroid‐lung</term><term>chorea</term><term>thyroid</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Codon, Terminator</term><term>Nuclear Proteins</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Lung Diseases</term><term>Mental Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Exons</term><term>Lung Diseases</term><term>Mental Disorders</term><term>Mutation</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>DNA Mutational Analysis</term><term>Family Health</term><term>Humans</term><term>Male</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Encéphale</term><term>Mutation</term><term>Pathologie du système nerveux</term><term>Poumon</term><term>Psychose</term><term>Retard staturopondéral</term><term>Syndrome choréique</term><term>Thyroïde</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Benign hereditary chorea (BHC) is a rare autosomal dominant nonprogressive movement disorder. In some cases the phenotype includes, besides choreoathetosis, thyroid dysfunction and pulmonary infections in infancy, as expressed by the name “Brain‐Thyroid‐Lung syndrome”. Mutations in the thyroid transcription factor‐1 (TITF‐1) gene have been identified in some BHC families. We present the phenotypic features of a family with chorea, hypothyroidism, and lung dysfunction. All affected individuals suffered from a nonprogressive chorea with infancy onset. All showed short stature and some webbed neck. One patient suffered from psychosis at the age of 27 years another from lung carcinoma. In all affected individuals, a novel mutation consisting of heterozygous C to A substitution at position 650 of the coding sequence of the TITF‐1 gene, exon 3 was detected, leading to a premature stop at codon 217 (S217X). We describe the unique phenotypic features and intrafamilial variability expressing this novel mutation. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>France</li><li>Israël</li></country><settlement><li>Lille</li></settlement></list><tree><country name="Israël"><noRegion><name sortKey="Glik, Amir" sort="Glik, Amir" uniqKey="Glik A" first="Amir" last="Glik">Amir Glik</name></noRegion><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name><name sortKey="Inzelberg, Rivka" sort="Inzelberg, Rivka" uniqKey="Inzelberg R" first="Rivka" last="Inzelberg">Rivka Inzelberg</name></country><country name="France"><noRegion><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name></noRegion><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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