Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease
Identifieur interne : 00AF08 ( Main/Exploration ); précédent : 00AF07; suivant : 00AF09Mutation screening of the N‐myc downstream‐regulated gene 1 (NDRG1) in patients with Charcot‐Marie‐Tooth Disease
Auteurs : Michael Hunter [Australie] ; Rafaëlle Bernard [France] ; Elizabeth Freitas [Australie] ; Amandine Boyer [France] ; Bharti Morar [Australie] ; Ian J. Martins [Australie] ; Ivailo Tournev [Bulgarie] ; Albena Jordanova [Bulgarie] ; Velina Guergelcheva [Bulgarie] ; Boryana Ishpekova [Bulgarie] ; Ivo Kremensky [Bulgarie] ; Garth Nicholson [Australie] ; Beate Schlotter [Allemagne] ; Hanns Lochmüller [Allemagne] ; Thomas Voit [Allemagne] ; Jaume Colomer [Espagne] ; P. K. Thomas [Royaume-Uni] ; Nicolas Levy [France] ; Luba Kalaydjieva [Australie]Source :
- Human Mutation [ 1059-7794 ] ; 2003-08.
Descripteurs français
- Wicri :
- topic : Codage, Base de données, Recherche médicale.
English descriptors
- KwdEn :
- Amino acids, Autosomal, Autosomal recessive, Cdna, Cellular stress, Clifton hill, Clinical phenotypes, Coding, Coding region, Coding sequence, Common causes, Database, Demyelinating, Demyelinating neuropathies, Different mutations, Differential display analysis, Disease table, Early growth response, Early onset, Exon, Founder mutation, Gene, Genetique medicale, Hearing loss, Hereditary, Hereditary motor, High degree, Hmsnl, Homozygous state, Human genes, Intronic sequences, Kalaydjieva, Lower limbs, Lupski, Medical research, Medical university, Molecular pathogenesis, Mutation, Mutation screening, Ndrg1, Ndrg1 coding sequence, Ndrg1 mutations, Neuropathy, Neuropathy type, Novel demyelinating neuropathy, Novel gene, Novel mutation, Nucleotide, Nucleotide diversity, Peripheral nerve, Peripheral neuropathies, Peripheral neuropathy, Perkin biosystems, Phenotype, Primer, Recessive, Romani, Same time, Sensory neuropathy, Sequence analysis, Sequence variant, Sequence variants, Sequence variation, Sequencing, Sequencing analysis, Single nucleotide polymorphisms, Snp, Tumor suppression, Unique role, Unrelated individuals, Variant.
- Teeft :
- Amino acids, Autosomal, Autosomal recessive, Cdna, Cellular stress, Clifton hill, Clinical phenotypes, Coding, Coding region, Coding sequence, Common causes, Database, Demyelinating, Demyelinating neuropathies, Different mutations, Differential display analysis, Disease table, Early growth response, Early onset, Exon, Founder mutation, Gene, Genetique medicale, Hearing loss, Hereditary, Hereditary motor, High degree, Hmsnl, Homozygous state, Human genes, Intronic sequences, Kalaydjieva, Lower limbs, Lupski, Medical research, Medical university, Molecular pathogenesis, Mutation, Mutation screening, Ndrg1, Ndrg1 coding sequence, Ndrg1 mutations, Neuropathy, Neuropathy type, Novel demyelinating neuropathy, Novel gene, Novel mutation, Nucleotide, Nucleotide diversity, Peripheral nerve, Peripheral neuropathies, Peripheral neuropathy, Perkin biosystems, Phenotype, Primer, Recessive, Romani, Same time, Sensory neuropathy, Sequence analysis, Sequence variant, Sequence variants, Sequence variation, Sequencing, Sequencing analysis, Single nucleotide polymorphisms, Snp, Tumor suppression, Unique role, Unrelated individuals, Variant.
Abstract
In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal‐response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot‐Marie‐Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease‐causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice‐acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/humu.10240
Affiliations:
- Allemagne, Australie, Bulgarie, Espagne, France, Royaume-Uni
- Angleterre, Bavière, Catalogne, District de Haute-Bavière, Grand Londres, Nouvelle-Galles du Sud, Provence-Alpes-Côte d'Azur, Sofia-ville (oblast)
- Barcelone, Londres, Marseille, Munich, Sofia, Sydney
- Université de Sydney
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nuts="2">Sofia-ville (oblast)</region></placeName></affiliation></author><author><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name><affiliation wicri:level="3"><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Laboratory of Molecular Pathology, Medical University, Sofia</wicri:regionArea><placeName><settlement type="city">Sofia</settlement><region nuts="2">Sofia-ville (oblast)</region></placeName></affiliation></author><author><name sortKey="Guergelcheva, Velina" sort="Guergelcheva, Velina" uniqKey="Guergelcheva V" first="Velina" last="Guergelcheva">Velina Guergelcheva</name><affiliation wicri:level="3"><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Department of Neurology, Medical University, Sofia</wicri:regionArea><placeName><settlement type="city">Sofia</settlement><region nuts="2">Sofia-ville (oblast)</region></placeName></affiliation></author><author><name sortKey="Ishpekova, Boryana" sort="Ishpekova, Boryana" uniqKey="Ishpekova B" first="Boryana" last="Ishpekova">Boryana Ishpekova</name><affiliation wicri:level="3"><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Department of Neurology, Medical University, Sofia</wicri:regionArea><placeName><settlement type="city">Sofia</settlement><region nuts="2">Sofia-ville (oblast)</region></placeName></affiliation></author><author><name sortKey="Kremensky, Ivo" sort="Kremensky, Ivo" uniqKey="Kremensky I" first="Ivo" last="Kremensky">Ivo Kremensky</name><affiliation wicri:level="3"><country xml:lang="fr">Bulgarie</country><wicri:regionArea>Laboratory of Molecular Pathology, Medical University, Sofia</wicri:regionArea><placeName><settlement type="city">Sofia</settlement><region nuts="2">Sofia-ville (oblast)</region></placeName></affiliation></author><author><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name><affiliation wicri:level="4"><country xml:lang="fr">Australie</country><wicri:regionArea>Neurobiology Department, ANZAC Research Institute, University of Sydney, Concord Hospital, Concord</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Schlotter, Beate" sort="Schlotter, Beate" uniqKey="Schlotter B" first="Beate" last="Schlotter">Beate Schlotter</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Friedrich‐Baur Institute, Ludwig‐Maximilians University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Friedrich‐Baur Institute, Ludwig‐Maximilians University, Munich</wicri:regionArea><placeName><region type="land" nuts="1">Bavière</region><region type="district" nuts="2">District de Haute-Bavière</region><settlement type="city">Munich</settlement></placeName></affiliation></author><author><name sortKey="Voit, Thomas" sort="Voit, Thomas" uniqKey="Voit T" first="Thomas" last="Voit">Thomas Voit</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Pediatrics, University Hospital Essen, Essen</wicri:regionArea><wicri:noRegion>Essen</wicri:noRegion><wicri:noRegion>Essen</wicri:noRegion></affiliation></author><author><name sortKey="Colomer, Jaume" sort="Colomer, Jaume" uniqKey="Colomer J" first="Jaume" last="Colomer">Jaume Colomer</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Sant Joan de Déu, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Thomas, P K" sort="Thomas, P K" uniqKey="Thomas P" first="P. K." last="Thomas">P. K. Thomas</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Institute of Neurology and National Hospital for Neurology and Neurosurgery, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Levy">Nicolas Levy</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Génétique Moléculaire, Département de Génétique Médicale, Hôpital d'enfants de la Timone, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Inserm U491, Génétique Médicale et Developpement, Faculté de Médecine Timone, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Laboratory of Molecular Genetics, Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, Nedlands</wicri:regionArea><wicri:noRegion>Nedlands</wicri:noRegion></affiliation><affiliation wicri:level="1"><country wicri:rule="url">Australie</country></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Correspondence address: Western Australian Institute for Medical Research and Centre for Medical Research, The University of Western Australia, “B” Block QE II Medical Centre, Hospital Avenue, Nedlands WA 6008</wicri:regionArea><wicri:noRegion>Nedlands WA 6008</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">22</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="129">129</biblScope><biblScope unit="page" to="135">135</biblScope><biblScope unit="page-count">7</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-08">2003-08</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino acids</term><term>Autosomal</term><term>Autosomal recessive</term><term>Cdna</term><term>Cellular stress</term><term>Clifton hill</term><term>Clinical phenotypes</term><term>Coding</term><term>Coding region</term><term>Coding sequence</term><term>Common causes</term><term>Database</term><term>Demyelinating</term><term>Demyelinating neuropathies</term><term>Different mutations</term><term>Differential display analysis</term><term>Disease table</term><term>Early growth response</term><term>Early onset</term><term>Exon</term><term>Founder mutation</term><term>Gene</term><term>Genetique medicale</term><term>Hearing loss</term><term>Hereditary</term><term>Hereditary motor</term><term>High degree</term><term>Hmsnl</term><term>Homozygous state</term><term>Human genes</term><term>Intronic sequences</term><term>Kalaydjieva</term><term>Lower limbs</term><term>Lupski</term><term>Medical research</term><term>Medical university</term><term>Molecular pathogenesis</term><term>Mutation</term><term>Mutation screening</term><term>Ndrg1</term><term>Ndrg1 coding sequence</term><term>Ndrg1 mutations</term><term>Neuropathy</term><term>Neuropathy type</term><term>Novel demyelinating neuropathy</term><term>Novel gene</term><term>Novel mutation</term><term>Nucleotide</term><term>Nucleotide diversity</term><term>Peripheral nerve</term><term>Peripheral neuropathies</term><term>Peripheral neuropathy</term><term>Perkin biosystems</term><term>Phenotype</term><term>Primer</term><term>Recessive</term><term>Romani</term><term>Same time</term><term>Sensory neuropathy</term><term>Sequence analysis</term><term>Sequence variant</term><term>Sequence variants</term><term>Sequence variation</term><term>Sequencing</term><term>Sequencing analysis</term><term>Single nucleotide polymorphisms</term><term>Snp</term><term>Tumor suppression</term><term>Unique role</term><term>Unrelated individuals</term><term>Variant</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Amino acids</term><term>Autosomal</term><term>Autosomal recessive</term><term>Cdna</term><term>Cellular stress</term><term>Clifton hill</term><term>Clinical phenotypes</term><term>Coding</term><term>Coding region</term><term>Coding sequence</term><term>Common causes</term><term>Database</term><term>Demyelinating</term><term>Demyelinating neuropathies</term><term>Different mutations</term><term>Differential display analysis</term><term>Disease table</term><term>Early growth response</term><term>Early onset</term><term>Exon</term><term>Founder mutation</term><term>Gene</term><term>Genetique medicale</term><term>Hearing loss</term><term>Hereditary</term><term>Hereditary motor</term><term>High degree</term><term>Hmsnl</term><term>Homozygous state</term><term>Human genes</term><term>Intronic sequences</term><term>Kalaydjieva</term><term>Lower limbs</term><term>Lupski</term><term>Medical research</term><term>Medical university</term><term>Molecular pathogenesis</term><term>Mutation</term><term>Mutation screening</term><term>Ndrg1</term><term>Ndrg1 coding sequence</term><term>Ndrg1 mutations</term><term>Neuropathy</term><term>Neuropathy type</term><term>Novel demyelinating neuropathy</term><term>Novel gene</term><term>Novel mutation</term><term>Nucleotide</term><term>Nucleotide diversity</term><term>Peripheral nerve</term><term>Peripheral neuropathies</term><term>Peripheral neuropathy</term><term>Perkin biosystems</term><term>Phenotype</term><term>Primer</term><term>Recessive</term><term>Romani</term><term>Same time</term><term>Sensory neuropathy</term><term>Sequence analysis</term><term>Sequence variant</term><term>Sequence variants</term><term>Sequence variation</term><term>Sequencing</term><term>Sequencing analysis</term><term>Single nucleotide polymorphisms</term><term>Snp</term><term>Tumor suppression</term><term>Unique role</term><term>Unrelated individuals</term><term>Variant</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Codage</term><term>Base de données</term><term>Recherche médicale</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">In a previous study, we have shown that N‐myc downstream‐regulated gene 1 (NDRG1), classified in databases as a tumor suppressor and heavy metal‐response protein, is mutated in hereditary motor and sensory neuropathy Lom (HMSNL), a severe autosomal recessive form of Charcot‐Marie‐Tooth (CMT) disease. The private founder mutation R148X, causing HMSNL in patients of Romani ethnicity, has so far remained the only molecular defect linking NDRG1 to a specific disease phenotype. Here we report the first study aiming to assess the overall contribution of this gene to the pathogenesis of peripheral neuropathies, in cases where the most common causes of CMT disease have been excluded. Sequence analysis of NDRG1 in 104 CMT patients of diverse ethnicity identified one novel disease‐causing mutation, IVS8−1G>A (g.2290787G>A), which affects the splice‐acceptor site of IVS8 and results in the skipping of exon 9. The phenotype of the IVS8−1G>A homozygote was very closely related to that of HMSNL patients. In addition, we have detected homozygosity for the known R148X mutation in two affected individuals. Mutations in NDRG1 thus accounted for 2.88% of our overall group of patients, and for 4.68% of cases with demyelinating neuropathies. No other variants were identified in the coding sequence, whereas 12 single nucleotide polymorphisms were observed in the introns. Hum Mutat 22:129–135, 2003. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Bulgarie</li><li>Espagne</li><li>France</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Bavière</li><li>Catalogne</li><li>District de Haute-Bavière</li><li>Grand Londres</li><li>Nouvelle-Galles du Sud</li><li>Provence-Alpes-Côte d'Azur</li><li>Sofia-ville (oblast)</li></region><settlement><li>Barcelone</li><li>Londres</li><li>Marseille</li><li>Munich</li><li>Sofia</li><li>Sydney</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="Australie"><noRegion><name sortKey="Hunter, Michael" sort="Hunter, Michael" uniqKey="Hunter M" first="Michael" last="Hunter">Michael Hunter</name></noRegion><name sortKey="Freitas, Elizabeth" sort="Freitas, Elizabeth" uniqKey="Freitas E" first="Elizabeth" last="Freitas">Elizabeth Freitas</name><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><name sortKey="Kalaydjieva, Luba" sort="Kalaydjieva, Luba" uniqKey="Kalaydjieva L" first="Luba" last="Kalaydjieva">Luba Kalaydjieva</name><name sortKey="Martins, Ian J" sort="Martins, Ian J" uniqKey="Martins I" first="Ian J." last="Martins">Ian J. Martins</name><name sortKey="Morar, Bharti" sort="Morar, Bharti" uniqKey="Morar B" first="Bharti" last="Morar">Bharti Morar</name><name sortKey="Nicholson, Garth" sort="Nicholson, Garth" uniqKey="Nicholson G" first="Garth" last="Nicholson">Garth Nicholson</name></country><country name="France"><region name="Provence-Alpes-Côte d'Azur"><name sortKey="Bernard, Rafaelle" sort="Bernard, Rafaelle" uniqKey="Bernard R" first="Rafaëlle" last="Bernard">Rafaëlle Bernard</name></region><name sortKey="Boyer, Amandine" sort="Boyer, Amandine" uniqKey="Boyer A" first="Amandine" last="Boyer">Amandine Boyer</name><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Levy">Nicolas Levy</name><name sortKey="Levy, Nicolas" sort="Levy, Nicolas" uniqKey="Levy N" first="Nicolas" last="Levy">Nicolas Levy</name></country><country name="Bulgarie"><region name="Sofia-ville (oblast)"><name sortKey="Tournev, Ivailo" sort="Tournev, Ivailo" uniqKey="Tournev I" first="Ivailo" last="Tournev">Ivailo Tournev</name></region><name sortKey="Guergelcheva, Velina" sort="Guergelcheva, Velina" uniqKey="Guergelcheva V" first="Velina" last="Guergelcheva">Velina Guergelcheva</name><name sortKey="Ishpekova, Boryana" sort="Ishpekova, Boryana" uniqKey="Ishpekova B" first="Boryana" last="Ishpekova">Boryana Ishpekova</name><name sortKey="Jordanova, Albena" sort="Jordanova, Albena" uniqKey="Jordanova A" first="Albena" last="Jordanova">Albena Jordanova</name><name sortKey="Kremensky, Ivo" sort="Kremensky, Ivo" uniqKey="Kremensky I" first="Ivo" last="Kremensky">Ivo Kremensky</name><name sortKey="Tournev, Ivailo" sort="Tournev, Ivailo" uniqKey="Tournev I" first="Ivailo" last="Tournev">Ivailo Tournev</name></country><country name="Allemagne"><region name="Bavière"><name sortKey="Schlotter, Beate" sort="Schlotter, Beate" uniqKey="Schlotter B" first="Beate" last="Schlotter">Beate Schlotter</name></region><name sortKey="Lochmuller, Hanns" sort="Lochmuller, Hanns" uniqKey="Lochmuller H" first="Hanns" last="Lochmüller">Hanns Lochmüller</name><name sortKey="Voit, Thomas" sort="Voit, Thomas" uniqKey="Voit T" first="Thomas" last="Voit">Thomas Voit</name></country><country name="Espagne"><region name="Catalogne"><name sortKey="Colomer, Jaume" sort="Colomer, Jaume" uniqKey="Colomer J" first="Jaume" last="Colomer">Jaume Colomer</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Thomas, P K" sort="Thomas, P K" uniqKey="Thomas P" first="P. 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