A New SERPINA-1 Missense Mutation Associated with Alpha-1 Antitrypsin Deficiency and Bronchiectasis

被引：10

作者：

Carpagnano, G. E. ^{[1
]}

Santacroce, R. ^{[2
]}

Palmiotti, G. A. ^{[1
]}

Leccese, A. ^{[2
]}

Giuffreda, E. ^{[1
]}

Margaglione, M. ^{[2
]}

Barbaro, M. P. Foschino ^{[1
]}

Aliberti, S. ^{[3
,4
]}

Lacedonia, D. ^{[1
]}

机构：

[1] Univ Foggia, Inst Resp Dis, Dept Med & Surg Sci, Foggia, Italy

[2] Univ Foggia, Dept Clin & Expt Med, Med Genet, Foggia, Italy

[3] Univ Milan, Dept Pathophysiol & Transplantat, Cardiothorac Unit, Milan, Italy

[4] Univ Milan, Adult Cyst Fibrosis Ctr, Fdn IRCCS Ca Granda Osped Maggiore Policlin, Milan, Italy

来源：

LUNG | 2017年 / 195卷 / 05期

关键词：

Alpha-1-antitrypsin deficiency; New SERPINA1 mutations; Bronchiectasis; Augmentation therapy; ALPHA(1)-ANTITRYPSIN DEFICIENCY; AUGMENTATION THERAPY; ANTITRYPSIN DEFICIENCY; DISEASE; PREVALENCE;

D O I：

10.1007/s00408-017-0033-2

中图分类号：

R56 [呼吸系及胸部疾病];

学科分类号：

摘要：

Alpha-1-antitrypsin deficiency (AATD) is a genetic condition caused by SERPINA1 mutations, which culminates into lower protease inhibitor activity in the serum and predisposes to emphysema. Clinical manifestations of AATD are often associated to ZZ (p.Glu342Lys) and SZ (p.Glu264Val) genotypes and less frequently to rare deficiency or null alleles in heterozygous and homozygous states. We report a case of a 52-year-old woman with bronchiectasis without other potential causes other than an electrophoresis that showed a decrease of alpha-1 globin band and AAT levels below the normal value (78 mg/dl; v.n. 90-200 mg/dl). No S or Z mutation was identified, but sequencing analysis found a novel missense variant Ile74Asn (c.221T > A) in heterozygous state on an M3 allele (Glu400Asp) in the exon 2 of the SERPINA-1gene, probably leading to a dysfunctional protein. This mutation has never been previously identified, and it is interesting to note the association with bronchiectasis in the absence of emphysema.

引用

页码：679 / 682

页数：4

共 17 条

[1]

Aggarwal N, 2016, ERJ OPEN RES, V2

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