Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions
Identifieur interne : 000C09 ( Istex/Curation ); précédent : 000C08; suivant : 000C10Genetic anticipation in Portuguese kindreds with familial amyloidotic polyneuropathy is unlikely to be caused by triplet repeat expansions
Auteurs : Miguel Soares ; Joel Buxbaum [États-Unis] ; Giorgio Sirugo [États-Unis] ; Teresa Coelho ; Alda Sousa ; Daniel Kastner [États-Unis] ; Maria João SaraivaSource :
- Human Genetics [ 0340-6717 ] ; 1999-07-01.
Abstract
Abstract: Familial amyloidotic polyneuropathy (FAP) is a lethal autosomal dominant type of amyloidosis resulting from the deposition of transthyretin (ATTR) variants in the peripheral and autonomic nervous systems. ATTR V30M-associated FAP exhibits marked genetic anticipation in some families, with clinical symptoms developing at an earlier age in successive generations. The genetic basis of this phenomenon in FAP is unknown. Anticipation has been associated with the dynamic expansion of trinucleotide repeats in several neurodegenerative disorders, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. We have used the repeat expansion detection (RED) assay to screen affected members of Portuguese FAP kindreds for expansion of any of the ten possible trinucleotide repeats. Nine generational pairs with differences in their age of onset greater than 12 years and a control pair with identical ages of onset were tested. No major differences were found in the lengths of the ten trinucleotide repeats analyzed. The distribution of the maximal repeat sizes was consistent with reported studies in unrelated individuals with no known genetic disease. The present data do not support a role for trinucleotide repeat expansions as the molecular mechanism underlying anticipation in Portuguese FAP.
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DOI: 10.1007/s004390050991
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Miguel Soares<affiliation><mods:affiliation>Amyloid Unit, Instituto de Biologia Molecular e Celular (IBMC), R. Campo Alegre, 823-4150 Porto, Portugal e-mail: mjsaraiv@ibmc.up.pt, Tel.: +351-2-6074900, Fax: +351-2-6099157, PT</mods:affiliation><wicri:noCountry code="subField">PT</wicri:noCountry></affiliation><affiliation><mods:affiliation>Neuropsychophysiology Unit, IBMC, Porto, Portugal, PT</mods:affiliation><wicri:noCountry code="subField">PT</wicri:noCountry></affiliation><affiliation><mods:affiliation>Centro de Estudos de Paramiloidose, Porto, Portugal, PT</mods:affiliation><wicri:noCountry code="subField">PT</wicri:noCountry></affiliation><affiliation><mods:affiliation>Amyloid Unit, Instituto de Biologia Molecular e Celular (IBMC), R. Campo Alegre, 823-4150 Porto, Portugal e-mail: mjsaraiv@ibmc.up.pt, Tel.: +351-2-6074900, Fax: +351-2-6099157, PT</mods:affiliation><wicri:noCountry code="subField">PT</wicri:noCountry></affiliation>Le document en format XML
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Campo Alegre, 823-4150 Porto, Portugal e-mail: mjsaraiv@ibmc.up.pt, Tel.: +351-2-6074900, Fax: +351-2-6099157, PT</mods:affiliation><wicri:noCountry code="subField">PT</wicri:noCountry></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Genetics</title><title level="j" type="abbrev">Hum Genet</title><idno type="ISSN">0340-6717</idno><idno type="eISSN">1432-1203</idno><imprint><publisher>Springer-Verlag</publisher><pubPlace>Berlin/Heidelberg</pubPlace><date type="published" when="1999-07-01">1999-07-01</date><biblScope unit="volume">104</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="480">480</biblScope><biblScope unit="page" to="485">485</biblScope></imprint><idno type="ISSN">0340-6717</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Abstract: Familial amyloidotic polyneuropathy (FAP) is a lethal autosomal dominant type of amyloidosis resulting from the deposition of transthyretin (ATTR) variants in the peripheral and autonomic nervous systems. ATTR V30M-associated FAP exhibits marked genetic anticipation in some families, with clinical symptoms developing at an earlier age in successive generations. The genetic basis of this phenomenon in FAP is unknown. Anticipation has been associated with the dynamic expansion of trinucleotide repeats in several neurodegenerative disorders, such as Huntington disease, myotonic dystrophy, and fragile X syndrome. We have used the repeat expansion detection (RED) assay to screen affected members of Portuguese FAP kindreds for expansion of any of the ten possible trinucleotide repeats. Nine generational pairs with differences in their age of onset greater than 12 years and a control pair with identical ages of onset were tested. No major differences were found in the lengths of the ten trinucleotide repeats analyzed. The distribution of the maximal repeat sizes was consistent with reported studies in unrelated individuals with no known genetic disease. The present data do not support a role for trinucleotide repeat expansions as the molecular mechanism underlying anticipation in Portuguese FAP.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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