A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia

Gianluca Caridi, Monica Dagnino, Francesca Lugani, Stavit A. Shalev, Monica Campagnoli, Monica Galliano, Ronen Spiegel, Lorenzo Minchiotti

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Background: Analbuminemia (OMIM # 103600) is a rare autosomal recessive disorder manifested by the absence or severe reduction of circulating serum albumin in homozygous or compound heterozygous subjects. The trait is caused by a variety of mutations within the albumin gene. Design: We report here the clinical and molecular characterisation of two new cases of congenital analbuminemia diagnosed in two members of the Druze population living in a Galilean village (Northern Israel) on the basis of their low level of circulating albumin. The albumin gene was screened by single-strand conformation polymorphism and heteroduplex analysis, and the mutated region was submitted to DNA sequencing. Results: Both the analbuminemic subjects resulted homozygous for a previously unreported c.1 A>C transversion, for which we suggest the name Afula from the hospital where the two cases were investigated. This mutation causes the loss of the primary start codon ATG for Met1, which is replaced by a - then untranslated - triplet CTG for Leu. (p.Met1Leu). The use of an alternative downstream ATG codon would probably give rise to a completely aberrant polypeptide chain, leading to a misrouted intracellular transport and a premature degradation. Conclusions: The discovery of this new ALB mutation, probably inherited from a common ancestor, sheds light on the molecular mechanism underlying the analbuminemic trait and may serve in the development of a rapid genetic test for the identification of a-symptomatic heterozygous carriers in the Druze population in the Galilee.

Original languageEnglish
Pages (from-to)72-78
Number of pages7
JournalEuropean Journal of Clinical Investigation
Volume43
Issue number1
DOIs
Publication statusPublished - Jan 2013

Fingerprint

Albumins
Genes
Mutation
Heteroduplex Analysis
Genetic Databases
Initiator Codon
Israel
Polymorphism
DNA Sequence Analysis
Serum Albumin
Codon
Population
Names
Conformations
Degradation
Peptides
DNA

Keywords

  • Analbuminemia
  • DNA sequence
  • Druze community
  • Human serum albumin
  • Missense mutation
  • Start codon

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Biochemistry
  • Biochemistry

Cite this

Caridi, G., Dagnino, M., Lugani, F., Shalev, S. A., Campagnoli, M., Galliano, M., ... Minchiotti, L. (2013). A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. European Journal of Clinical Investigation, 43(1), 72-78. https://doi.org/10.1111/eci.12019

A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. / Caridi, Gianluca; Dagnino, Monica; Lugani, Francesca; Shalev, Stavit A.; Campagnoli, Monica; Galliano, Monica; Spiegel, Ronen; Minchiotti, Lorenzo.

In: European Journal of Clinical Investigation, Vol. 43, No. 1, 01.2013, p. 72-78.

Research output: Contribution to journalArticle

Caridi, G, Dagnino, M, Lugani, F, Shalev, SA, Campagnoli, M, Galliano, M, Spiegel, R & Minchiotti, L 2013, 'A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia', European Journal of Clinical Investigation, vol. 43, no. 1, pp. 72-78. https://doi.org/10.1111/eci.12019
Caridi, Gianluca ; Dagnino, Monica ; Lugani, Francesca ; Shalev, Stavit A. ; Campagnoli, Monica ; Galliano, Monica ; Spiegel, Ronen ; Minchiotti, Lorenzo. / A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia. In: European Journal of Clinical Investigation. 2013 ; Vol. 43, No. 1. pp. 72-78.
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