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Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic  SERPINA1  gene. This genetic disorder still remains largely under-recognized and can be associated with lung and/or liver injury. The laboratory testing for this deficiency typically comprises serum alpha-1 antitrypsin quantification, phenotyping according to the isoelectric focusing pattern and genotyping if necessary. To date, more than 100  SERPINA1  variants have been described and new genetic variants are frequently discovered. Over the past 10 years, 22 new genetic variants of the  SERPINA1  gene were identified in the daily practice of the University Medical laboratories of Lille and Lyon (France). Among these 22 variants, seven were Null alleles and one with a M1 migration pattern (M1 Cremeaux ) was considered as deficient according to the clinical and biological data and to the American College of Medical Genetics and Genomics (ACMG) criteria. Three other variants were classified as likely pathogenic, three as variants of uncertain significance while the remaining ones were assumed to be neutral. Moreover, we also identified in this study two recently described  SERPINA1  deficient variants: Trento (p.Glu99Val) and S Donosti  (p.Ser38Phe). The current data, together with a recent published meta-analysis, represent the most up-to-date list of  SERPINA1  variants available so far.   Electronic supplementary material  The online version of this article (10.1186/s13023-018-0897-0) contains supplementary material, which is available to authorized users.

Description of 22 new alpha-1 antitrypsin genetic variants