A novel alpha1-antitrypsin null variant (PiQ0_(Milano))

作     者：Raffaela Rametta Gabriella Nebbia Paola Dongiovanni Marcello Farallo Silvia Fargion Luca Valenti 

作者机构：Department of Pathophysiology and Transplantation Università degli Studi di Milano Internal Medicine Fondazione IRCCS Ca’ Granda Ospedale Policlinico Milano Pediatric Clinic Fondazione IRCCS Ca’ Granda Ospedale Policlinico 

出 版 物：《World Journal of Hepatology》 (世界肝病学杂志（英文版）（电子版）)

年 卷 期：2013年第5卷第8期

页      面：458-461页

学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

基　　金：Supported by The Borsa M.Coppo AISF Italian Association for the Study of the Liver to Rametta R 

主　　题：Alpha1-antitrypsin deficiency Rare variant Alpha1-antitrypsin null mutation Liver disease 

摘      要：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 *** 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.