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Identification and characterisation of twenty-two novel SERPINA1 pathological mutations

Stefania Ottaviani, Anna Maria Fra, Alice Maria Balderacchi, Valentina Barzon, Tomas Patrick Carroll, Davide Piloni, Francesca Mariani, Noel Gerard Mc Elvaney, Angelo Guido Corsico, Ilaria Ferrarotti
European Respiratory Journal 2020 56: 4922; DOI: 10.1183/13993003.congress-2020.4922
Stefania Ottaviani
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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  • For correspondence: s.ottaviani@smatteo.pv.it
Anna Maria Fra
2Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia (BS), Italy
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Alice Maria Balderacchi
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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Valentina Barzon
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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Tomas Patrick Carroll
3Respiratory Research, Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland
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Davide Piloni
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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Francesca Mariani
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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Noel Gerard Mc Elvaney
3Respiratory Research, Department of Medicine, Royal College of Surgeons in Ireland Education and Research Centre, Beaumont Hospital, Dublin, Ireland
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Angelo Guido Corsico
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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Ilaria Ferrarotti
1Centre for Diagnosis of Inherited Alpha-1 Antitrypsin Deficiency, Laboratory of Biochemistry and Genetics, Institute for Respiratory Disease, Department of Internal Medicine and Therapeutics, University of Pavia, Fondazione IRCCS Policlinico San Matteo, Pavia (PV), Italy
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Abstract

Background: Alpha-1 antitrypsin (AAT) is a serine protease inhibitor, encoded by the highly polymorphic SERPINA1 gene. Mutations in the SERPINA1 gene can lead to AAT deficiency (AATD), which is associated with a substantially increased risk of lung and liver disease.

Objectives: Here we reported 22 novel AAT pathological mutations that we discovered during the Italian and Irish targeted detection programs of AATD during the last years.

Methods: We performed the determination of AAT serum levels by a rate immune nephelometric method. The phenotype was determined by isoelectric focusing analysis. DNA was isolated from whole peripheral blood, dried blood spot (DBS) samples or buccal swabs using a commercial extraction kit. The new mutations were identified by sequencing exonic and part of the intronic portions of the SERPINA1 gene by Sanger methods or Next Generation Sequencing. Predictive algorithm have been applied to them.

Results: We found 22 previously unidentified SERPINA1 pathological mutations. Three of them are Null mutations, the others are non-synonymous mutations causing protein deficiency. According to clinical data, the protein structural context and residue conservation, the variants have been classified as “pathogenic”, “likely pathogenic” and “likely benign”.

Conclusions: We added twenty-two more mutations to the list of SERPINA1 alleles. Moreover, we underlined that the laboratory diagnosis of AATD is not just a matter of degree, because the precise determination of the deficiency and Null alleles carried by an AATD individual may help to evaluate the risk for the lung disease.

  • Diagnosis
  • Genetics
  • Orphan diseases

Footnotes

Cite this article as: European Respiratory Journal 2020; 56: Suppl. 64, 4922.

This abstract was presented at the 2020 ERS International Congress, in session “Respiratory viruses in the "pre COVID-19" era”.

This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only).

  • Copyright ©the authors 2020
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Identification and characterisation of twenty-two novel SERPINA1 pathological mutations
Stefania Ottaviani, Anna Maria Fra, Alice Maria Balderacchi, Valentina Barzon, Tomas Patrick Carroll, Davide Piloni, Francesca Mariani, Noel Gerard Mc Elvaney, Angelo Guido Corsico, Ilaria Ferrarotti
European Respiratory Journal Sep 2020, 56 (suppl 64) 4922; DOI: 10.1183/13993003.congress-2020.4922

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Identification and characterisation of twenty-two novel SERPINA1 pathological mutations
Stefania Ottaviani, Anna Maria Fra, Alice Maria Balderacchi, Valentina Barzon, Tomas Patrick Carroll, Davide Piloni, Francesca Mariani, Noel Gerard Mc Elvaney, Angelo Guido Corsico, Ilaria Ferrarotti
European Respiratory Journal Sep 2020, 56 (suppl 64) 4922; DOI: 10.1183/13993003.congress-2020.4922
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