Brown−Vialetto−Van Laere and Fazio−Londe syndromes: <i>SLC52A3</i> mutations with puzzling phenotypes and inheritance

Abstract

A rare and peculiar pattern of autosomal pseudodominant inheritance is observed for the first time in two genetically related BVVLS cases with Indian origin and a common mutation c.62A>G (p.Asn21Ser) in SLC52A3 can be responsible for both BVVLS and FLD with variable phenotypes.