Novel mutation (M_angera-E288V) in alpha-1 antitrypsin deficiency

Area of Science:

• Genetics
• Pulmonology
• Hepatology

Background:

• Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder caused by SERPINA1 gene mutations.
• Various mutations are linked to lung and liver diseases.
• A novel mutation, Mangera, was discovered in an Italian patient.

Purpose of the Study:

• To report a novel SERPINA1 mutation, Mangera.
• To describe the clinical presentation and genetic findings in a patient with severe AATD.
• To emphasize the importance of specialized diagnostics for AATD.

Main Methods:

• Case report of a 64-year-old Italian male with severe AATD.
• Genetic analysis to identify SERPINA1 gene mutations.
• Pulmonary function tests and chest CT scans to assess disease severity.

Main Results:

• A novel mutation, Mangera, was identified in a patient with the S allele.
• The patient presented with mild airway obstruction and early emphysema.
• Despite severe AAT deficiency, clinical and radiological progression was minimal.

Conclusions:

• The Mangera mutation expands the known spectrum of SERPINA1 variants.
• Accurate diagnosis requires referral to specialized centers.
• Vigilance and thorough investigation are crucial for suspected AATD cases.