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Updated: May 8, 2026
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A novel alpha1-antitrypsin null variant (PiQ0Milano )
Raffaela Rametta1, Gabriella Nebbia, Paola Dongiovanni
1Raffaela Rametta, Silvia Fargion, Luca Valenti, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, 20122 Milano, Italy.
World Journal of Hepatology
|September 12, 2013
Summary
A novel Alpha1-antitrypsin deficiency (AAT) allele, Q0Milano, was discovered in an Italian child. This genetic variant causes an unfunctional AAT protein, potentially impacting liver health.
Area of Science:
- Genetics
- Molecular Biology
- Hepatology
Background:
- Alpha1-antitrypsin deficiency (AATD) is an inherited disorder.
- Caused by SERPINA1 gene mutations, leading to low AAT levels.
- AATD is linked to early-onset pulmonary emphysema and liver disease.
Purpose of the Study:
- To report the incidental finding of a novel AAT allele.
- To characterize the genetic and functional impact of this new variant.
- To investigate its association with clinical findings in a pediatric patient.
Main Methods:
- Genetic sequencing of the SERPINA1 gene.
- Analysis of alpha1-antitrypsin protein structure and function.
- Clinical evaluation of liver enzymes and AAT levels.
Main Results:
- Identification of a novel null AAT allele, designated Q0Milano.
- Q0Milano results from a 17-nucleotide deletion in exon 3 of the SERPINA1 gene.
- The variant leads to a truncated, unfunctional AAT protein lacking its active site and affecting protein stability.
Conclusions:
- The Q0Milano variant represents a new cause of alpha1-antitrypsin deficiency.
- This allele can result in liver enzyme abnormalities without pulmonary symptoms.
- Further research is needed to understand the full clinical spectrum of Q0Milano.
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