Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
Identifieur interne : 00D703 ( Main/Exploration ); précédent : 00D702; suivant : 00D704Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene
Auteurs : Lois M. Mulligan [Royaume-Uni, Canada] ; Charts Eng [Royaume-Uni, États-Unis] ; Tanla Attlé [France] ; Stanislas Lyonnet [France] ; Debbie J. Marsh [Australie] ; Valentine J. Hyland [Australie] ; Bruce G. Robinson [Australie] ; Andrea Frilling [Allemagne] ; Christine Verellen-Dumoulln [Belgique] ; Anne Safar [France] ; Deon J. Venter [Australie] ; Arnold Munnich [France] ; Bruce A. J. Ponder [Royaume-Uni]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 1994-12.
Abstract
Mutations of the RET proto-oncogene are the underlying cause of some cases of Hlrschsprung disease (HSCR) and the Inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). In HSCR these mutations are dispersed throughout the gene, while in MEN 2A and FMTC, they are tightly clustered In five cystelne codons of the RET extracellular domain. HSCR and MEN 2 are usually distinct but occasional families have been reported wtth both diseases. In each of five families with HSCR with or without MEN 2A or FMTC, we have identified a nucleotide substitution In one of the five cystelne codons previously associated with MEN 2A or FMTC. In one family, which had HSCR as its only phenotype, we detected a Cys-Trp mutation at codon 609 which had not been previously observed. In three families, both HSCR and MEN 2A were associated with a single Cys—Arg mutation at either codon 618 or 620 of RET. In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus. We suggest that specific mutations In cysteine codons 618 and 620 result In MEN 2A or FMTC, but can also predispose to HSCR with low penetrance.
Url:
DOI: 10.1093/hmg/3.12.2163
Affiliations:
- Allemagne, Australie, Belgique, Canada, France, Royaume-Uni, États-Unis
- Massachusetts, Île-de-France
- Paris
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Marsh</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Molecular Genetics, Kollmg Institute of MedicaJ Research, RoyaJ North Shore HosprtaJ St Leonards, NSW 2065</wicri:regionArea><wicri:noRegion>NSW 2065</wicri:noRegion></affiliation></author><author><name sortKey="Hyland, Valentine J" sort="Hyland, Valentine J" uniqKey="Hyland V" first="Valentine J." last="Hyland">Valentine J. Hyland</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Molecular Genetics, Kollmg Institute of MedicaJ Research, RoyaJ North Shore HosprtaJ St Leonards, NSW 2065</wicri:regionArea><wicri:noRegion>NSW 2065</wicri:noRegion></affiliation></author><author><name sortKey="Robinson, Bruce G" sort="Robinson, Bruce G" uniqKey="Robinson B" first="Bruce G." last="Robinson">Bruce G. Robinson</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Molecular Genetics, Kollmg Institute of MedicaJ Research, RoyaJ North Shore HosprtaJ St Leonards, NSW 2065</wicri:regionArea><wicri:noRegion>NSW 2065</wicri:noRegion></affiliation></author><author><name sortKey="Frilling, Andrea" sort="Frilling, Andrea" uniqKey="Frilling A" first="Andrea" last="Frilling">Andrea Frilling</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Universits-Krankenhaus, Chirurgtsche Klmik, University Hamburg Martinstrasse 52, 2000 Hamburg 20</wicri:regionArea><wicri:noRegion>2000 Hamburg 20</wicri:noRegion><wicri:noRegion>2000 Hamburg 20</wicri:noRegion></affiliation></author><author><name sortKey="Verellen Dumoulln, Christine" sort="Verellen Dumoulln, Christine" uniqKey="Verellen Dumoulln C" first="Christine" last="Verellen-Dumoulln">Christine Verellen-Dumoulln</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Centre de Genetique Medicale, Universrte Catholique de Louvain 1200 Bruxeltes</wicri:regionArea><wicri:noRegion>Universrte Catholique de Louvain 1200 Bruxeltes</wicri:noRegion></affiliation></author><author><name sortKey="Safar, Anne" sort="Safar, Anne" uniqKey="Safar A" first="Anne" last="Safar">Anne Safar</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Chirurgie Pediatrique, Hfiprtal Saint-Vincent de Paul</wicri:regionArea><wicri:noRegion>Hfiprtal Saint-Vincent de Paul</wicri:noRegion><wicri:noRegion>Hfiprtal Saint-Vincent de Paul</wicri:noRegion></affiliation></author><author><name sortKey="Venter, Deon J" sort="Venter, Deon J" uniqKey="Venter D" first="Deon J." last="Venter">Deon J. Venter</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Royal Children's Hospital, Parkville Melbourne, Victoria 3052</wicri:regionArea><wicri:noRegion>Victoria 3052</wicri:noRegion></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service de Genetique Medicale, Clinique Chirurgicale Infantile et Unite de Recherches sur les Handicaps Genetques de I1 Enfant, INSERM U-393, Hdprtal Necker-Enfants Malades 149 Rue de Sevres, 75743 Paris cedex 15</wicri:regionArea><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Ponder, Bruce A J" sort="Ponder, Bruce A J" uniqKey="Ponder B" first="Bruce A. J." last="Ponder">Bruce A. J. Ponder</name><affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Cancer Research Campaign Human Cancer Genetics Research Group, Department of Pathotogy, University of Cambridge Tennis Court Road, Cambridge CB2 1QP</wicri:regionArea><wicri:noRegion>Cambridge CB2 1QP</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="1994-12">1994-12</date><biblScope unit="volume">3</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2163">2163</biblScope><biblScope unit="page" to="2168">2168</biblScope></imprint><idno type="ISSN">0964-6906</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Mutations of the RET proto-oncogene are the underlying cause of some cases of Hlrschsprung disease (HSCR) and the Inherited cancer syndromes multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC). In HSCR these mutations are dispersed throughout the gene, while in MEN 2A and FMTC, they are tightly clustered In five cystelne codons of the RET extracellular domain. HSCR and MEN 2 are usually distinct but occasional families have been reported wtth both diseases. In each of five families with HSCR with or without MEN 2A or FMTC, we have identified a nucleotide substitution In one of the five cystelne codons previously associated with MEN 2A or FMTC. In one family, which had HSCR as its only phenotype, we detected a Cys-Trp mutation at codon 609 which had not been previously observed. In three families, both HSCR and MEN 2A were associated with a single Cys—Arg mutation at either codon 618 or 620 of RET. In the fifth family, FMTC and HSCR were present but we could not determine whether HSCR arose from mutation of the RET locus. We suggest that specific mutations In cysteine codons 618 and 620 result In MEN 2A or FMTC, but can also predispose to HSCR with low penetrance.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Canada</li><li>France</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Massachusetts</li><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="Royaume-Uni"><noRegion><name sortKey="Mulligan, Lois M" sort="Mulligan, Lois M" uniqKey="Mulligan L" first="Lois M." last="Mulligan">Lois M. Mulligan</name></noRegion><name sortKey="Eng, Charts" sort="Eng, Charts" uniqKey="Eng C" first="Charts" last="Eng">Charts Eng</name><name sortKey="Ponder, Bruce A J" sort="Ponder, Bruce A J" uniqKey="Ponder B" first="Bruce A. J." last="Ponder">Bruce A. J. Ponder</name></country><country name="Canada"><noRegion><name sortKey="Mulligan, Lois M" sort="Mulligan, Lois M" uniqKey="Mulligan L" first="Lois M." last="Mulligan">Lois M. Mulligan</name></noRegion><name sortKey="Mulligan, Lois M" sort="Mulligan, Lois M" uniqKey="Mulligan L" first="Lois M." last="Mulligan">Lois M. Mulligan</name><name sortKey="Mulligan, Lois M" sort="Mulligan, Lois M" uniqKey="Mulligan L" first="Lois M." last="Mulligan">Lois M. Mulligan</name></country><country name="États-Unis"><region name="Massachusetts"><name sortKey="Eng, Charts" sort="Eng, Charts" uniqKey="Eng C" first="Charts" last="Eng">Charts Eng</name></region></country><country name="France"><noRegion><name sortKey="Attle, Tanla" sort="Attle, Tanla" uniqKey="Attle T" first="Tanla" last="Attlé">Tanla Attlé</name></noRegion><name sortKey="Lyonnet, Stanislas" sort="Lyonnet, Stanislas" uniqKey="Lyonnet S" first="Stanislas" last="Lyonnet">Stanislas Lyonnet</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Safar, Anne" sort="Safar, Anne" uniqKey="Safar A" first="Anne" last="Safar">Anne Safar</name></country><country name="Australie"><noRegion><name sortKey="Marsh, Debbie J" sort="Marsh, Debbie J" uniqKey="Marsh D" first="Debbie J." last="Marsh">Debbie J. Marsh</name></noRegion><name sortKey="Hyland, Valentine J" sort="Hyland, Valentine J" uniqKey="Hyland V" first="Valentine J." last="Hyland">Valentine J. Hyland</name><name sortKey="Robinson, Bruce G" sort="Robinson, Bruce G" uniqKey="Robinson B" first="Bruce G." last="Robinson">Bruce G. Robinson</name><name sortKey="Venter, Deon J" sort="Venter, Deon J" uniqKey="Venter D" first="Deon J." last="Venter">Deon J. Venter</name></country><country name="Allemagne"><noRegion><name sortKey="Frilling, Andrea" sort="Frilling, Andrea" uniqKey="Frilling A" first="Andrea" last="Frilling">Andrea Frilling</name></noRegion></country><country name="Belgique"><noRegion><name sortKey="Verellen Dumoulln, Christine" sort="Verellen Dumoulln, Christine" uniqKey="Verellen Dumoulln C" first="Christine" last="Verellen-Dumoulln">Christine Verellen-Dumoulln</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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