A Deletional Frameshift Mutation In Spectrin Beta-gene Associated With Hereditary Elliptocytosis In Spectrin Napoli

We studied a clinically manifest, dominantly transmitted elliptocytosis in an Italian family. We found a new spectrin variant, designated spectrin Napoli. Its beta-chain was truncated in its C-terminal region (apparent MW 216 kD). It displayed a low expression level(15%). There was a 8 nt deletion: CTTTTGAGAAGT --> TGT (nt 6255-6262), starting after codon 2053. This deletion was followed by a 54nt (18 amino acids) missense sequence and terminated by the TGA triplet which normally overlaps codons 2074 and 2075 (CTTGAG). The overall length of the mutated beta-chain was comparable to that found in spectrin Nice, spectrin Tokyo and spectrin Tandil, which are other variants with truncated beta-chains; however, a distinct nonsense codon was used in spectrin Napoli.