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Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene

Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L)...

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Autores principales: Dagnino, Monica, Caridi, Gianluca, Haenni, Ueli, Duss, Adrian, Aregger, Fabienne, Campagnoli, Monica, Galliano, Monica, Minchiotti, Lorenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Diversity Preservation International (MDPI) 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233406/
https://www.ncbi.nlm.nih.gov/pubmed/22174600
http://dx.doi.org/10.3390/ijms12117314
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author Dagnino, Monica
Caridi, Gianluca
Haenni, Ueli
Duss, Adrian
Aregger, Fabienne
Campagnoli, Monica
Galliano, Monica
Minchiotti, Lorenzo
author_facet Dagnino, Monica
Caridi, Gianluca
Haenni, Ueli
Duss, Adrian
Aregger, Fabienne
Campagnoli, Monica
Galliano, Monica
Minchiotti, Lorenzo
author_sort Dagnino, Monica
collection PubMed
description Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L) in the absence of renal or gastrointestinal protein loss, or liver dysfunction. The clinical diagnosis was confirmed by a mutational analysis of the albumin (ALB) gene, carried out by single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing. This screening of the ALB gene revealed that the proband is homozygous for two mutations: the insertion of a T in a stretch of eight Ts spanning positions c.1289 + 23–c.1289 + 30 of intron 10 and a c.802 G > T transversion in exon 7. Whereas the presence of an additional T in the poly-T tract has no direct deleterious effect, the latter nonsense mutation changes the codon GAA for Glu244 to the stop codon TAA, resulting in a premature termination of the polypeptide chain. The putative protein product would have a length of only 243 amino acid residues instead of the normal 585 found in the mature serum albumin, but no evidence for the presence in serum of such a truncated polypeptide chain could be obtained by two dimensional electrophoresis and western blotting analysis.
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spelling pubmed-32334062011-12-15 Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene Dagnino, Monica Caridi, Gianluca Haenni, Ueli Duss, Adrian Aregger, Fabienne Campagnoli, Monica Galliano, Monica Minchiotti, Lorenzo Int J Mol Sci Communication Analbuminemia is a rare autosomal recessive disorder manifested by the absence, or severe reduction, of circulating serum albumin (ALB). We report here a new case diagnosed in a 45 years old man of Southwestern Asian origin, living in Switzerland, on the basis of his low ALB concentration (0.9 g/L) in the absence of renal or gastrointestinal protein loss, or liver dysfunction. The clinical diagnosis was confirmed by a mutational analysis of the albumin (ALB) gene, carried out by single-strand conformational polymorphism (SSCP), heteroduplex analysis (HA), and DNA sequencing. This screening of the ALB gene revealed that the proband is homozygous for two mutations: the insertion of a T in a stretch of eight Ts spanning positions c.1289 + 23–c.1289 + 30 of intron 10 and a c.802 G > T transversion in exon 7. Whereas the presence of an additional T in the poly-T tract has no direct deleterious effect, the latter nonsense mutation changes the codon GAA for Glu244 to the stop codon TAA, resulting in a premature termination of the polypeptide chain. The putative protein product would have a length of only 243 amino acid residues instead of the normal 585 found in the mature serum albumin, but no evidence for the presence in serum of such a truncated polypeptide chain could be obtained by two dimensional electrophoresis and western blotting analysis. Molecular Diversity Preservation International (MDPI) 2011-10-25 /pmc/articles/PMC3233406/ /pubmed/22174600 http://dx.doi.org/10.3390/ijms12117314 Text en © 2011 by the authors; licensee MDPI, Basel, Switzerland. http://creativecommons.org/licenses/by/3.0 This article is an open-access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/).
spellingShingle Communication
Dagnino, Monica
Caridi, Gianluca
Haenni, Ueli
Duss, Adrian
Aregger, Fabienne
Campagnoli, Monica
Galliano, Monica
Minchiotti, Lorenzo
Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
title Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
title_full Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
title_fullStr Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
title_full_unstemmed Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
title_short Molecular Diagnosis of Analbuminemia: A New Case Caused by a Nonsense Mutation in the Albumin Gene
title_sort molecular diagnosis of analbuminemia: a new case caused by a nonsense mutation in the albumin gene
topic Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3233406/
https://www.ncbi.nlm.nih.gov/pubmed/22174600
http://dx.doi.org/10.3390/ijms12117314
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