| A novel alpha1-antitrypsin null variant （PiQ0Milano）nt (PiQ0Milano) |
| |
| 引用本文： | Raffaela Rametta,Gabriella Nebbia,Paola Dongiovanni,Marcello Farallo,Silvia Fargion,Luca Valenti. A novel alpha1-antitrypsin null variant （PiQ0Milano）nt (PiQ0Milano)[J]. World journal of hepatology, 2013, 5(8): 458-461. DOI: 10.4254/wjh.v5.i8.458 |
| |
| 作者姓名： | Raffaela Rametta Gabriella Nebbia Paola Dongiovanni Marcello Farallo Silvia Fargion Luca Valenti |
| |
| 作者单位： | 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 |
| |
| 基金项目： | Supported by The Borsa M.Coppo AISF,Italian Association for the Study of the Liver to Rametta R |
| |
| 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 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.
|
| 关 键 词： | Alpha1-antitrypsin deficiency Rare variant Alpha1-antitrypsin null mutation Liver disease |
| 收稿时间： | 2013-05-10 |
A novel alpha1-antitrypsin null variant (PiQ0Milano) |
| |
| Raffaela Rametta;Gabriella Nebbia;Paola Dongiovanni;Marcello Farallo;Silvia Fargion;Luca Valenti;. A novel alpha1-antitrypsin null variant (PiQ0Milano)[J]. World journal of hepatology, 2013, 5(8): 458-461. DOI: 10.4254/wjh.v5.i8.458 |
| |
| Authors: | Raffaela Rametta Gabriella Nebbia Paola Dongiovanni Marcello Farallo Silvia Fargion Luca Valenti |
| |
| Affiliation: | Raffaela Rametta, Silvia Fargion, Luca Valenti, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milano, ItalyGabriella Nebbia, Paola Dongiovanni, Silvia Fargion, Luca Valenti, Internal Medicine, Fondazione IRCCS Ca’ Granda Ospedale Policlinico Milano, 20122 Milano, ItalyMarcello Farallo, Pediatric Clinic, Fondazione IRCCS Ca’ Granda Ospedale Policlinico, 20122 Milano, Italy |
| |
| 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. |
| |
| Keywords: | Alpha1-antitrypsin deficiency Rare variant Alpha1-antitrypsin null mutation Liver disease |
| 本文献已被 CNKI 等数据库收录！ |
| 点击此处可从《World journal of hepatology》浏览原始摘要信息 |
|
