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-->CTGT (nt 6255-6262), starting after codon 2053. This deletion was followed by a 54 nt (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.
Wilmotte
R
R
CNRS URA 1171, Institut Pasteur de Lyon, France.
Miraglia del Giudice
E
E
Marechal
J
J
Perrotta
S
S
de Mattia
D
D
Delaunay
J
J
Iolascon
A
A
D000328:Adult; D001483:Base Sequence; D002648:Child; D004612:Elliptocytosis, Hereditary / Q000097:blood / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D013049:Spectrin / Q000235:genetics*
D013049:Spectrin