Annals of Thoracic Medicine Official publication of the Saudi Thoracic Society, affiliated to King Saud University
 
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CASE REPORT
Year : 2018  |  Volume : 13  |  Issue : 1  |  Page : 59-61

Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli


1 Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy
2 Department of Respiratory Diseases, Division of Pneumology, University of Naples Federico II, AORN dei Colli-Monaldi Hospital, Naples, Italy
3 Department of Cardio- Respiratory Rehabilitation, Pulmonary Rehabilitation Unit, ICS Maugeri SpA SB, Institute of Telese Terme, Benevento, Italy

Correspondence Address:
Dr. Mauro Maniscalco
Via Bagni Vecchi 1, 82037 Telese Terme, Benevento
Italy
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DOI: 10.4103/atm.ATM_234_17

PMID: 29387258

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Alpha-1 antitrypsin deficiency is a rare and often underdiagnosed hereditary disorder, which mainly affects the Caucasian population. We report a case of a noncystic fibrosis bronchiectasis patient in the absence of emphysema associated with low serum alpha-1-antitrypsin (AAT) level, in the absence of the most common defective alleles associated with AAT deficiency (PI*S and PI*Z) but with a new mutation in heterozygosis. This mutation is characterized by the substitution in the coding region of exon 3, of a guanine (G) for a thymine (T), generating the replacement of a glutamine (Gln) by a histidine (His) in codon 212 (cod 212 GlnCAG > HisCAT), corresponds to a new S allelic variant. This mutation, never identified before, is called S-Napoli.


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