Description of a new rare alpha-1 antitrypsin mutation in Naples (Italy): PI*M S-Napoli. 2018

Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
Department of Clinical Medicine and Surgery, Federico II University Hospital, Naples, Italy.

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.

UI MeSH Term Description Entries

Related Publications

Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1980, Bulletin europeen de physiopathologie respiratoire,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1980, Human heredity,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1984, Human genetics,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
June 1979, Jinrui idengaku zasshi. The Japanese journal of human genetics,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 2000, Human heredity,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1983, Human genetics,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1985, Human genetics,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1981, Human heredity,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1984, Human genetics,
Marco Mosella, and Mariasofia Accardo, and Antonio Molino, and Mauro Maniscalco, and Alessandro Sanduzzi Zamparelli
January 1984, Experimental and clinical immunogenetics,
Copied contents to your clipboard!