Lung

, Volume 195, Issue 5, pp 679–682 | Cite as

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

  • G. E. Carpagnano
  • R. Santacroce
  • G. A. Palmiotti
  • A. Leccese
  • E. Giuffreda
  • M. Margaglione
  • M. P. Foschino Barbaro
  • S. Aliberti
  • D. Lacedonia
Article

Abstract

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.

Keywords

Alpha-1-antitrypsin deficiency New SERPINA1 mutations Bronchiectasis Augmentation therapy 

Notes

Compliance with Ethical Standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed Consent

Informed consent was obtained from all individual participants included in the study.

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  1. 1.Department of Medical and Surgical Sciences, Institute of Respiratory DiseasesUniversity of FoggiaFoggiaItaly
  2. 2.Medical Genetics, Department of Clinical and Experimental MedicineUniversity of FoggiaFoggiaItaly
  3. 3.Department of Pathophysiology and Transplantation, Cardio-Thoracic Unit and Adult Cystic Fibrosis CenterFondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, University of MilanMilanItaly

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