Copyright
©2013 Baishideng Publishing Group Co., Limited. All rights reserved.
World J Hepatol. Aug 27, 2013; 5(8): 458-461
Published online Aug 27, 2013. doi: 10.4254/wjh.v5.i8.458
Published online Aug 27, 2013. doi: 10.4254/wjh.v5.i8.458
A novel alpha1-antitrypsin null variant (PiQ0Milano)
Raffaela Rametta, Silvia Fargion, Luca Valenti, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milano, Italy
Gabriella Nebbia, Paola Dongiovanni, Silvia Fargion, Luca Valenti, Internal Medicine, Fondazione IRCCS Ca’ Granda Ospedale Policlinico Milano, 20122 Milano, Italy
Marcello Farallo, Pediatric Clinic, Fondazione IRCCS Ca’ Granda Ospedale Policlinico, 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
Revised: July 2, 2013
Accepted: August 4, 2013
Published online: August 27, 2013
Processing time: 133 Days and 11.5 Hours
Core Tip
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.