Rametta R, Nebbia G, Dongiovanni P, Farallo M, Fargion S, Valenti L. A novel alpha1-antitrypsin null variant (PiQ0Milano). World J Hepatol 2013; 5(8): 458-461 [PMID: 24023986 DOI: 10.4254/wjh.v5.i8.458]
Corresponding Author of This Article
Luca Valenti, MD, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Policlinico, Pad. Granelli, via F Sforza 25, 20122 Milano, Italy. luca.valenti@unimi.it
Research Domain of This Article
Gastroenterology & Hepatology
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Raffaela Rametta, Silvia Fargion, Luca Valenti, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milano, Italy
Author contributions: Rametta R performed the genetic analysis and wrote the first manuscript draft; Dongiovanni P supervised genetic analysis; Nebbia G and Farallo M were responsible for the clinical care of the patients; Fargion S and Valenti L supervised the study; Valenti L edited the manuscript; all authors contributed to data interpretation, read and approved the final manuscript draft.
Supported by The Borsa M. Coppo AISF, Italian Association for the Study of the Liver to Rametta R
Correspondence to: Luca Valenti, MD, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Policlinico, Pad. Granelli, via F Sforza 25, 20122 Milano, Italy. luca.valenti@unimi.it
Telephone: +39-2-50320278 Fax: +39-2-50320296
Received: May 10, 2013 Revised: July 2, 2013 Accepted: August 4, 2013 Published online: August 27, 2013 Processing time: 133 Days and 11.5 Hours
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.
Core tip: We report an incidental finding of a novel null alpha1-antitrypsin (AAT) allele, Q0Milano, consisting of a 17 nucleotides deletion in exon 3 of SERPINA1 gene, in an Italian child with persistently increased in liver enzymes and a mild decrease in circulating AAT levels. 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.
