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

Marco Mosella, Mariasofia Accardo, Antonio Molino, Mauro Maniscalco, Alessandro Sanduzzi Zamparelli

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)59-61
Number of pages3
JournalAnnals of Thoracic Medicine
Volume13
Issue number1
DOIs
Publication statusPublished - Feb 2 2018

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