Phenotype–genotype spectrum of AAA syndrome from Western India and systematic review of literature

Abstract

Clinical profile of our patients is similar to that of patients worldwide. Alacrima is the earliest and most consistent finding. MC deficiency is uncommon. Some recurrent mutations show regional clustering. p.G14Vfs*45 and p.S255Vfs*36 account for majority of <i>AAAS</i> mutations in our cohort. Phenotype of T group differs from that of NT group and merits future research.