2017
DOI: 10.1016/j.rmcr.2016.11.008
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Identification of a novel alpha1-antitrypsin variant

Abstract: Alpha-1-antitrypsin deficiency (A1ATD) is a genetic condition caused by SERPINA1 mutations, which results into decreased protease inhibitor activity in the serum and predisposes to emphysema and/or to liver disease due to accumulation of the abnormal protein in the hepatic cells. In most cases the clinical manifestations of A1ATD are associated with PIZZ (p.Glu366Lys; p.Glu366Lys (p.Glu342Lys; p.Glu342Lys)) or PISZ (p.Glu288Val; p.Glu366Lys (p.Glu264Val; p.Glu342Lys)) genotype, less frequently, deficient or nu… Show more

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Cited by 3 publications
(3 citation statements)
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“…Although detecting rare/novel mutations can be challenging, recent sequencing techniques (NGS) should be employed when standard PCR and IEF tests suggest a normal genotype in patients with low/normal AAT levels. Gene sequencing techniques are able to detect rare/novel genotypes, and in some cases, can help to determine the most suitable course of treatment for patients with AATD [ 3 ]. Nevertheless, it should be noted that sequencing techniques are generally expensive to run and less widely available in general laboratory/clinic settings than more basic tests.…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Although detecting rare/novel mutations can be challenging, recent sequencing techniques (NGS) should be employed when standard PCR and IEF tests suggest a normal genotype in patients with low/normal AAT levels. Gene sequencing techniques are able to detect rare/novel genotypes, and in some cases, can help to determine the most suitable course of treatment for patients with AATD [ 3 ]. Nevertheless, it should be noted that sequencing techniques are generally expensive to run and less widely available in general laboratory/clinic settings than more basic tests.…”
Section: Discussionmentioning
confidence: 99%
“…The primary function of AAT is to regulate serine proteases and protect the lungs from elastolytic damage by inhibiting the proteolytic enzyme neutrophil elastase [ 2 ]. Sequence variants of the SERPINA1 gene can result in low serum levels of AAT or subtle structural changes to the protein that reduce its functionality [ 3 ]. This deficit in functional AAT results in Alpha 1 Antitrypsin Deficiency (AATD), a condition associated with lung tissue destruction, emphysema and liver disease [ 4 ].…”
Section: Introductionmentioning
confidence: 99%
“…Serpin family A member 1 (SERPINA1) is located on chromosome 14 (14q32.1), encoding the protein Alpha1-antitrypsin (A1AT) that is a highly conserved protein and the dominant protease inhibitor, the inhibition capacity of which accounts for more than 90% of all plasma proteases [4]. SERPINA1 is expressed mainly in hepatocytes but is also synthesized in mononuclear phagocytes, neutrophils, and intestinal epithelial cells [5]. SERPINA1 plays a crucial role in the maintenance of cell homeostasis through irreversibly inhibiting a variety of serine endopeptidases.…”
Section: Introductionmentioning
confidence: 99%