A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
Identifieur interne : 001499 ( Main/Exploration ); précédent : 001498; suivant : 001500A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
Auteurs : Gianluca Caridi [Italie] ; Elif Yilmaz Gulec [Turquie] ; Monica Campagnoli [Italie] ; Francesca Lugani [Italie] ; Hasan Onal [Turquie] ; Duzgun Kilic [Turquie] ; Monica Galliano [Italie] ; Lorenzo Minchiotti [Italie]Source :
- Biochemia Medica [ 1330-0962 ] ; 2016.
Abstract
Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations within the albumin gene have been found to cause the trait. In our continuing study of the molecular genetics of congenital analbuminemia, we report here the clinical and biochemical findings and the mutation analysis of the gene in two Turkish infants. For the molecular analysis, we used our strategy, based on the screening of the gene by single-strand conformation polymorphism, heteroduplex analysis and direct DNA sequencing. The results showed that both patients are homozygous for the deletion of a cytosine residue in exon 5, in a stretch of four cytosines starting from nucleotide position 524 and ending at position 527 (NM_000477.5
Url:
DOI: 10.11613/BM.2016.031
PubMed: 27346974
PubMed Central: 4910280
Affiliations:
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><p>Congenital analbuminemia is an autosomal recessive disorder, in which albumin, the major blood protein, is present only in a minute amount. The condition is a rare allelic heterogeneous defect, only about seventy cases have been reported worldwide. To date, more than twenty different mutations within the albumin gene have been found to cause the trait. In our continuing study of the molecular genetics of congenital analbuminemia, we report here the clinical and biochemical findings and the mutation analysis of the gene in two Turkish infants. For the molecular analysis, we used our strategy, based on the screening of the gene by single-strand conformation polymorphism, heteroduplex analysis and direct DNA sequencing. The results showed that both patients are homozygous for the deletion of a cytosine residue in exon 5, in a stretch of four cytosines starting from nucleotide position 524 and ending at position 527 (NM_000477.5<italic>(ALB)</italic>
:c.527delC). The subsequent frame-shift inserts a stop codon in position 215, markedly reducing the size of the predicted protein product. The parents are both heterozygous for the same mutation, for which we propose the name Erzurum from the city of origin of the family. In conclusion, our results show that in this family congenital analbuminemia is caused by a novel frame-shift/deletion defect, confirm the inheritance of the trait, and contribute to advance our understanding of the molecular basis underlying this condition.</p>
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<author><name sortKey="Daba, Mb" uniqKey="Daba M">MB Daba</name>
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<author><name sortKey="Plumridge, A" uniqKey="Plumridge A">A Plumridge</name>
</author>
<author><name sortKey="Evans, L" uniqKey="Evans L">L Evans</name>
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</author>
<author><name sortKey="Hentze, Mw" uniqKey="Hentze M">MW Hentze</name>
</author>
<author><name sortKey="Kulozik, Ae" uniqKey="Kulozik A">AE Kulozik</name>
</author>
</analytic>
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<author><name sortKey="Greene, Mw" uniqKey="Greene M">MW Greene</name>
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<author><name sortKey="Peters, T" uniqKey="Peters T">T Peters</name>
</author>
</analytic>
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</author>
<author><name sortKey="Campagnoli, M" uniqKey="Campagnoli M">M Campagnoli</name>
</author>
<author><name sortKey="Rossi, A" uniqKey="Rossi A">A Rossi</name>
</author>
<author><name sortKey="Wirsing Von Konig, Ch" uniqKey="Wirsing Von Konig C">CH Wirsing von König</name>
</author>
<author><name sortKey="Lyon, Aw" uniqKey="Lyon A">AW Lyon</name>
</author>
<author><name sortKey="Cefle, K" uniqKey="Cefle K">K Cefle</name>
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<affiliations><list><country><li>Italie</li>
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<tree><country name="Italie"><noRegion><name sortKey="Caridi, Gianluca" sort="Caridi, Gianluca" uniqKey="Caridi G" first="Gianluca" last="Caridi">Gianluca Caridi</name>
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<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>
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<country name="Turquie"><noRegion><name sortKey="Gulec, Elif Yilmaz" sort="Gulec, Elif Yilmaz" uniqKey="Gulec E" first="Elif Yilmaz" last="Gulec">Elif Yilmaz Gulec</name>
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