A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.
Identifieur interne : 000184 ( Main/Exploration ); précédent : 000183; suivant : 000185A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.
Auteurs : Gianluca Caridi [Italie] ; Wolfgang Thomas [Allemagne] ; Monica Campagnoli [Italie] ; Francesca Lugani [Italie] ; Monica Galliano [Italie] ; Lorenzo Minchiotti [Italie]Source :
- Annals of clinical biochemistry [ 1758-1001 ] ; 2016.
Abstract
Congenital analbuminaemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. The clinical diagnosis may be challenging because of the absence of unambiguous symptoms and because hypoalbuminemia may have many causes different from a genetic lack of the protein. We describe the clinical and molecular characterization of a new case of congenital analbuminaemia in an infant of apparently non-consanguineous parents from Treves, Germany. For molecular diagnosis, we used our strategy, based on the screening of the albumin gene by single-strand conformation polymorphism, heteroduplex analysis and direct DNA sequencing, which revealed that the proband is homozygous and both parents are heterozygous, for a novel G > T transversion at nucleotide c.270+ 1, the first base of intron 3. The mutation inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of this intron. In conclusion, we report the clinical findings and the molecular defect of this case, which contributes to a better understanding of the biological mechanism of congenital analbuminaemia.
DOI: 10.1177/0004563215618223
PubMed: 26543026
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream PubMed, to step Corpus: 000090
- to stream PubMed, to step Curation: 000090
- to stream PubMed, to step Checkpoint: 000090
- to stream Ncbi, to step Merge: 000857
- to stream Ncbi, to step Curation: 000857
- to stream Ncbi, to step Checkpoint: 000857
- to stream Main, to step Merge: 000184
- to stream Main, to step Curation: 000184
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.</title>
<author><name sortKey="Caridi, Gianluca" sort="Caridi, Gianluca" uniqKey="Caridi G" first="Gianluca" last="Caridi">Gianluca Caridi</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thomas, Wolfgang" sort="Thomas, Wolfgang" uniqKey="Thomas W" first="Wolfgang" last="Thomas">Wolfgang Thomas</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Klinikum Mutterhaus der Borromaeerinnen, Trier, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Klinikum Mutterhaus der Borromaeerinnen, Trier</wicri:regionArea>
<wicri:noRegion>Trier</wicri:noRegion>
<wicri:noRegion>Trier</wicri:noRegion>
<wicri:noRegion>Trier</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Campagnoli, Monica" sort="Campagnoli, Monica" uniqKey="Campagnoli M" first="Monica" last="Campagnoli">Monica Campagnoli</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, University of Pavia, Pavia, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Medicine, University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lugani, Francesca" sort="Lugani, Francesca" uniqKey="Lugani F" first="Francesca" last="Lugani">Francesca Lugani</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Galliano, Monica" sort="Galliano, Monica" uniqKey="Galliano M" first="Monica" last="Galliano">Monica Galliano</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, University of Pavia, Pavia, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Medicine, University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Minchiotti, Lorenzo" sort="Minchiotti, Lorenzo" uniqKey="Minchiotti L" first="Lorenzo" last="Minchiotti">Lorenzo Minchiotti</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, University of Pavia, Pavia, Italy loremin@unipv.it.</nlm:affiliation>
<country wicri:rule="url">Italie</country>
<wicri:regionArea>Department of Molecular Medicine, University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PubMed</idno>
<date when="2016">2016</date>
<idno type="RBID">pubmed:26543026</idno>
<idno type="pmid">26543026</idno>
<idno type="doi">10.1177/0004563215618223</idno>
<idno type="wicri:Area/PubMed/Corpus">000090</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000090</idno>
<idno type="wicri:Area/PubMed/Curation">000090</idno>
<idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000090</idno>
<idno type="wicri:Area/PubMed/Checkpoint">000090</idno>
<idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000090</idno>
<idno type="wicri:Area/Ncbi/Merge">000857</idno>
<idno type="wicri:Area/Ncbi/Curation">000857</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000857</idno>
<idno type="wicri:Area/Main/Merge">000184</idno>
<idno type="wicri:Area/Main/Curation">000184</idno>
<idno type="wicri:Area/Main/Exploration">000184</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en">A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant.</title>
<author><name sortKey="Caridi, Gianluca" sort="Caridi, Gianluca" uniqKey="Caridi G" first="Gianluca" last="Caridi">Gianluca Caridi</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thomas, Wolfgang" sort="Thomas, Wolfgang" uniqKey="Thomas W" first="Wolfgang" last="Thomas">Wolfgang Thomas</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Pediatrics, Klinikum Mutterhaus der Borromaeerinnen, Trier, Germany.</nlm:affiliation>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, Klinikum Mutterhaus der Borromaeerinnen, Trier</wicri:regionArea>
<wicri:noRegion>Trier</wicri:noRegion>
<wicri:noRegion>Trier</wicri:noRegion>
<wicri:noRegion>Trier</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Campagnoli, Monica" sort="Campagnoli, Monica" uniqKey="Campagnoli M" first="Monica" last="Campagnoli">Monica Campagnoli</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, University of Pavia, Pavia, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Medicine, University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lugani, Francesca" sort="Lugani, Francesca" uniqKey="Lugani F" first="Francesca" last="Lugani">Francesca Lugani</name>
<affiliation wicri:level="1"><nlm:affiliation>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova</wicri:regionArea>
<wicri:noRegion>Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Galliano, Monica" sort="Galliano, Monica" uniqKey="Galliano M" first="Monica" last="Galliano">Monica Galliano</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, University of Pavia, Pavia, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Molecular Medicine, University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Minchiotti, Lorenzo" sort="Minchiotti, Lorenzo" uniqKey="Minchiotti L" first="Lorenzo" last="Minchiotti">Lorenzo Minchiotti</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Molecular Medicine, University of Pavia, Pavia, Italy loremin@unipv.it.</nlm:affiliation>
<country wicri:rule="url">Italie</country>
<wicri:regionArea>Department of Molecular Medicine, University of Pavia, Pavia</wicri:regionArea>
<wicri:noRegion>Pavia</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Annals of clinical biochemistry</title>
<idno type="eISSN">1758-1001</idno>
<imprint><date when="2016" type="published">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Congenital analbuminaemia is a rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin. The clinical diagnosis may be challenging because of the absence of unambiguous symptoms and because hypoalbuminemia may have many causes different from a genetic lack of the protein. We describe the clinical and molecular characterization of a new case of congenital analbuminaemia in an infant of apparently non-consanguineous parents from Treves, Germany. For molecular diagnosis, we used our strategy, based on the screening of the albumin gene by single-strand conformation polymorphism, heteroduplex analysis and direct DNA sequencing, which revealed that the proband is homozygous and both parents are heterozygous, for a novel G > T transversion at nucleotide c.270+ 1, the first base of intron 3. The mutation inactivates the strongly conserved GT dinucleotide at the 5' splice site consensus sequence of this intron. In conclusion, we report the clinical findings and the molecular defect of this case, which contributes to a better understanding of the biological mechanism of congenital analbuminaemia.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Italie</li>
</country>
</list>
<tree><country name="Italie"><noRegion><name sortKey="Caridi, Gianluca" sort="Caridi, Gianluca" uniqKey="Caridi G" first="Gianluca" last="Caridi">Gianluca Caridi</name>
</noRegion>
<name sortKey="Campagnoli, Monica" sort="Campagnoli, Monica" uniqKey="Campagnoli M" first="Monica" last="Campagnoli">Monica Campagnoli</name>
<name sortKey="Galliano, Monica" sort="Galliano, Monica" uniqKey="Galliano M" first="Monica" last="Galliano">Monica Galliano</name>
<name sortKey="Lugani, Francesca" sort="Lugani, Francesca" uniqKey="Lugani F" first="Francesca" last="Lugani">Francesca Lugani</name>
<name sortKey="Minchiotti, Lorenzo" sort="Minchiotti, Lorenzo" uniqKey="Minchiotti L" first="Lorenzo" last="Minchiotti">Lorenzo Minchiotti</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Thomas, Wolfgang" sort="Thomas, Wolfgang" uniqKey="Thomas W" first="Wolfgang" last="Thomas">Wolfgang Thomas</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Rhénanie/explor/UnivTrevesV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000184 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000184 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Rhénanie |area= UnivTrevesV1 |flux= Main |étape= Exploration |type= RBID |clé= pubmed:26543026 |texte= A novel splicing mutation in the albumin gene (c.270+1G>T) causes analbuminaemia in a German infant. }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:26543026" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \ | NlmPubMed2Wicri -a UnivTrevesV1
This area was generated with Dilib version V0.6.31. |