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

Mosella, Marco; Accardo, Mariasofia; Molino, Antonio; Maniscalco, Mauro; Zamparelli, Alessandro Sanduzzi
January 2018
Annals of Thoracic Medicine;Jan-Mar2018, Vol. 13 Issue 1, p59
Academic Journal
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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