AustralieFrV1, Main, Exploration, bibRecord, 007072

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Identifieur interne : 007072 ( Main/Exploration ); précédent : 007071; suivant : 007073

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Auteurs : Stéphanie Maupetit-Méhouas [France] ; Virginie Mariot [France] ; Christelle Reynès [France] ; Guylène Bertrand [France] ; Francois Feillet [France] ; Jean-Claude Carel [France] ; Dominique Simon [France] ; Hélène Bihan [France] ; Vincent Gajdos [France] ; Eve Devouge [France] ; Savitha Shenoy [Royaume-Uni] ; Placide Agbo-Kpati [France] ; Anne Ronan [Australie] ; Catherine Naud-Saudreau [France] ; Anne Lienhardt [France] ; Caroline Silve [France] ; Agnès Linglart [France]

Source :

Journal of Medical Genetics [ 0022-2593 ] ; 2011-01.

RBID : ISTEX:04167EA3EC5F03CA000338C4FC82163CCE831147

English descriptors

Abstract

Background Pseudohypoparathyroidism type Ib (PHP-Ib) is due to epigenetic changes at the imprinted GNAS locus, including loss of methylation at the A/B differentially methylated region (DMR) and sometimes at the XL and AS DMRs and gain of methylation at the NESP DMR. Objective To investigate if quantitative measurement of the methylation at the GNAS DMRs identifies subtypes of PHP-Ib. Design and methods In 19 patients with PHP-Ib and 7 controls, methylation was characterised at the four GNAS DMRs through combined bisulfite restriction analysis and quantified through cytosine specific real-time PCR in blood lymphocyte DNA. Results A principal component analysis using the per cent of methylation at seven cytosines of the GNAS locus provided three clusters of subjects (controls n=7, autosomal dominant PHP-Ib with loss of methylation restricted to the A/B DMR n=3, and sporadic PHP-Ib with broad GNAS methylation changes n=16) that matched perfectly the combined bisulfite restriction analysis classification. Furthermore, three sub-clusters of patients with sporadic PHP-Ib, that displayed different patterns of methylation, were identified: incomplete changes at all DMRs compatible with somatic mosaicism (n=5), profound epigenetic changes at all DMRs (n=8), and unmodified methylation at XL in contrast with the other DMRs (n=3). Interestingly, parathyroid hormone concentration at the time of diagnosis correlated with the per cent of methylation at the A/B DMR. Conclusion Quantitative assessment of the methylation in blood lymphocyte DNA is of clinical relevance, allows the diagnosis of PHP-Ib, and identifies subtypes of PHP-Ib. These epigenetic findings suggest mosaicism at least in some patients.

Url:

https://api.istex.fr/document/04167EA3EC5F03CA000338C4FC82163CCE831147/fulltext/pdf

DOI: 10.1136/jmg.2010.081356

Affiliations:

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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Albright osteodystrophy</term>
<term>Allele</term>
<term>Bastepe</term>
<term>Biochemical characteristics</term>
<term>Body mass index</term>
<term>Clin</term>
<term>Clin endocrinol metab</term>
<term>Cytosine</term>
<term>Defect</term>
<term>Deletion</term>
<term>Different patterns</term>
<term>Differentially</term>
<term>Differentially methylated regions</term>
<term>Dmrs</term>
<term>Endocrinol</term>
<term>Epigenetic</term>
<term>Epigenetic changes</term>
<term>Epigenetic defects</term>
<term>Euclidean distance</term>
<term>Genet</term>
<term>Gnas</term>
<term>Gnas locus</term>
<term>Gnas1</term>
<term>Gure</term>
<term>Hopital</term>
<term>Hormonal resistance</term>
<term>Imprinting</term>
<term>Juppner</term>
<term>Linglart</term>
<term>Locus</term>
<term>Metab</term>
<term>Methylated</term>
<term>Methylation</term>
<term>Methylation abnormalities</term>
<term>Methylation changes</term>
<term>Methylation defects</term>
<term>Methylation patterns</term>
<term>Mosaicism</term>
<term>Nesp</term>
<term>Nesp dmrs</term>
<term>Nesp exon</term>
<term>Normal range</term>
<term>Nucleic acids</term>
<term>Osteodystrophy</term>
<term>Parathyroid hormone</term>
<term>Parental imprinting</term>
<term>Php1</term>
<term>Php4</term>
<term>Primer</term>
<term>Principal component analysis</term>
<term>Proc natl acad</term>
<term>Pseudohypoparathyroidism</term>
<term>Pseudohypoparathyroidism type</term>
<term>Quantitative method</term>
<term>Restriction analysis</term>
<term>Somatic mosaicism</term>
<term>Sporadic pseudohypoparathyroidism type</term>
<term>Sporphplb</term>
<term>Unmethylated</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Albright osteodystrophy</term>
<term>Allele</term>
<term>Bastepe</term>
<term>Biochemical characteristics</term>
<term>Body mass index</term>
<term>Clin</term>
<term>Clin endocrinol metab</term>
<term>Cytosine</term>
<term>Defect</term>
<term>Deletion</term>
<term>Different patterns</term>
<term>Differentially</term>
<term>Differentially methylated regions</term>
<term>Dmrs</term>
<term>Endocrinol</term>
<term>Epigenetic</term>
<term>Epigenetic changes</term>
<term>Epigenetic defects</term>
<term>Euclidean distance</term>
<term>Genet</term>
<term>Gnas</term>
<term>Gnas locus</term>
<term>Gnas1</term>
<term>Gure</term>
<term>Hopital</term>
<term>Hormonal resistance</term>
<term>Imprinting</term>
<term>Juppner</term>
<term>Linglart</term>
<term>Locus</term>
<term>Metab</term>
<term>Methylated</term>
<term>Methylation</term>
<term>Methylation abnormalities</term>
<term>Methylation changes</term>
<term>Methylation defects</term>
<term>Methylation patterns</term>
<term>Mosaicism</term>
<term>Nesp</term>
<term>Nesp dmrs</term>
<term>Nesp exon</term>
<term>Normal range</term>
<term>Nucleic acids</term>
<term>Osteodystrophy</term>
<term>Parathyroid hormone</term>
<term>Parental imprinting</term>
<term>Php1</term>
<term>Php4</term>
<term>Primer</term>
<term>Principal component analysis</term>
<term>Proc natl acad</term>
<term>Pseudohypoparathyroidism</term>
<term>Pseudohypoparathyroidism type</term>
<term>Quantitative method</term>
<term>Restriction analysis</term>
<term>Somatic mosaicism</term>
<term>Sporadic pseudohypoparathyroidism type</term>
<term>Sporphplb</term>
<term>Unmethylated</term>
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<front><div type="abstract">Background Pseudohypoparathyroidism type Ib (PHP-Ib) is due to epigenetic changes at the imprinted GNAS locus, including loss of methylation at the A/B differentially methylated region (DMR) and sometimes at the XL and AS DMRs and gain of methylation at the NESP DMR. Objective To investigate if quantitative measurement of the methylation at the GNAS DMRs identifies subtypes of PHP-Ib. Design and methods In 19 patients with PHP-Ib and 7 controls, methylation was characterised at the four GNAS DMRs through combined bisulfite restriction analysis and quantified through cytosine specific real-time PCR in blood lymphocyte DNA. Results A principal component analysis using the per cent of methylation at seven cytosines of the GNAS locus provided three clusters of subjects (controls n=7, autosomal dominant PHP-Ib with loss of methylation restricted to the A/B DMR n=3, and sporadic PHP-Ib with broad GNAS methylation changes n=16) that matched perfectly the combined bisulfite restriction analysis classification. Furthermore, three sub-clusters of patients with sporadic PHP-Ib, that displayed different patterns of methylation, were identified: incomplete changes at all DMRs compatible with somatic mosaicism (n=5), profound epigenetic changes at all DMRs (n=8), and unmodified methylation at XL in contrast with the other DMRs (n=3). Interestingly, parathyroid hormone concentration at the time of diagnosis correlated with the per cent of methylation at the A/B DMR. Conclusion Quantitative assessment of the methylation in blood lymphocyte DNA is of clinical relevance, allows the diagnosis of PHP-Ib, and identifies subtypes of PHP-Ib. These epigenetic findings suggest mosaicism at least in some patients.</div>
</front>
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<affiliations><list><country><li>Australie</li>
<li>France</li>
<li>Royaume-Uni</li>
</country>
<region><li>Grand Est</li>
<li>Limousin</li>
<li>Lorraine (région)</li>
<li>Nouvelle-Aquitaine</li>
<li>Région Bretagne</li>
<li>Île-de-France</li>
</region>
<settlement><li>Bobigny</li>
<li>Limoges</li>
<li>Lorient</li>
<li>Nancy</li>
<li>Paris</li>
<li>Vandœuvre-lès-Nancy</li>
</settlement>
<orgName><li>Université Paris-Descartes</li>
</orgName>
</list>
<tree><country name="France"><region name="Île-de-France"><name sortKey="Maupetit Mehouas, Stephanie" sort="Maupetit Mehouas, Stephanie" uniqKey="Maupetit Mehouas S" first="Stéphanie" last="Maupetit-Méhouas">Stéphanie Maupetit-Méhouas</name>
</region>
<name sortKey="Agbo Kpati, Placide" sort="Agbo Kpati, Placide" uniqKey="Agbo Kpati P" first="Placide" last="Agbo-Kpati">Placide Agbo-Kpati</name>
<name sortKey="Bertrand, Guylene" sort="Bertrand, Guylene" uniqKey="Bertrand G" first="Guylène" last="Bertrand">Guylène Bertrand</name>
<name sortKey="Bihan, Helene" sort="Bihan, Helene" uniqKey="Bihan H" first="Hélène" last="Bihan">Hélène Bihan</name>
<name sortKey="Carel, Jean Claude" sort="Carel, Jean Claude" uniqKey="Carel J" first="Jean-Claude" last="Carel">Jean-Claude Carel</name>
<name sortKey="Devouge, Eve" sort="Devouge, Eve" uniqKey="Devouge E" first="Eve" last="Devouge">Eve Devouge</name>
<name sortKey="Feillet, Francois" sort="Feillet, Francois" uniqKey="Feillet F" first="Francois" last="Feillet">Francois Feillet</name>
<name sortKey="Gajdos, Vincent" sort="Gajdos, Vincent" uniqKey="Gajdos V" first="Vincent" last="Gajdos">Vincent Gajdos</name>
<name sortKey="Lienhardt, Anne" sort="Lienhardt, Anne" uniqKey="Lienhardt A" first="Anne" last="Lienhardt">Anne Lienhardt</name>
<name sortKey="Linglart, Agnes" sort="Linglart, Agnes" uniqKey="Linglart A" first="Agnès" last="Linglart">Agnès Linglart</name>
<name sortKey="Linglart, Agnes" sort="Linglart, Agnes" uniqKey="Linglart A" first="Agnès" last="Linglart">Agnès Linglart</name>
<name sortKey="Linglart, Agnes" sort="Linglart, Agnes" uniqKey="Linglart A" first="Agnès" last="Linglart">Agnès Linglart</name>
<name sortKey="Mariot, Virginie" sort="Mariot, Virginie" uniqKey="Mariot V" first="Virginie" last="Mariot">Virginie Mariot</name>
<name sortKey="Naud Saudreau, Catherine" sort="Naud Saudreau, Catherine" uniqKey="Naud Saudreau C" first="Catherine" last="Naud-Saudreau">Catherine Naud-Saudreau</name>
<name sortKey="Reynes, Christelle" sort="Reynes, Christelle" uniqKey="Reynes C" first="Christelle" last="Reynès">Christelle Reynès</name>
<name sortKey="Silve, Caroline" sort="Silve, Caroline" uniqKey="Silve C" first="Caroline" last="Silve">Caroline Silve</name>
<name sortKey="Silve, Caroline" sort="Silve, Caroline" uniqKey="Silve C" first="Caroline" last="Silve">Caroline Silve</name>
<name sortKey="Simon, Dominique" sort="Simon, Dominique" uniqKey="Simon D" first="Dominique" last="Simon">Dominique Simon</name>
</country>
<country name="Royaume-Uni"><noRegion><name sortKey="Shenoy, Savitha" sort="Shenoy, Savitha" uniqKey="Shenoy S" first="Savitha" last="Shenoy">Savitha Shenoy</name>
</noRegion>
</country>
<country name="Australie"><noRegion><name sortKey="Ronan, Anne" sort="Ronan, Anne" uniqKey="Ronan A" first="Anne" last="Ronan">Anne Ronan</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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   |texte=   Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib
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	Serveur d'exploration sur les relations entre la France et l'Australie
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Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

Quantification of the methylation at the GNAS locus identifies subtypes of sporadic pseudohypoparathyroidism type Ib

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Abstract

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