A novel alpha1-antitrypsin null variant (PiQ0Milano)

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Alpha1-antitrypsin deficiency is an autosomal recessive disease characterized by reduced serum levels of alpha1-antitrypsin (AAT) due to mutations in the SERPINA1 gene causing early onset pulmonary emphysema and, occasionally, chronic liver disease. We report an incidental finding of a novel null AAT allele, Q0Milano, consisting of a 17 nucleotides deletion in exon 3 of SERPINA1 gene, in an Italian child with persistently increased liver enzymes, a mild decrease in circulating AAT levels and without any pulmonary disease. Q0Milano variant results in an unfunctional protein lacking of AAT active site, as the resultant protein is truncated near PiS locus involved in AAT protein stability.

Original languageEnglish
Pages (from-to)458-461
Number of pages4
JournalWorld Journal of Hepatology
Volume5
Issue number8
DOIs
Publication statusPublished - 2013

Fingerprint

Pulmonary Emphysema
Incidental Findings
Protein Stability
Lung Diseases
Genes
Liver Diseases
Exons
Catalytic Domain
Proteins
Chronic Disease
Nucleotides
Alleles
Mutation
Liver
Enzymes
Serum

Keywords

  • Alpha1-antitrypsin deficiency
  • Alpha1-antitrypsin null mutation
  • Liver disease
  • Rare variant

ASJC Scopus subject areas

  • Hepatology

Cite this

A novel alpha1-antitrypsin null variant (PiQ0Milano). / Rametta, Raffaela; Nebbia, Gabriella; Dongiovanni, Paola; Farallo, Marcello; Fargion, Silvia; Valenti, Luca.

In: World Journal of Hepatology, Vol. 5, No. 8, 2013, p. 458-461.

Research output: Contribution to journalArticle

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AU - Valenti, Luca

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