Premium
A deletional frameshift mutation in spectrin β‐gene associated with hereditary elliptocytosis in spectrin Napoli
Author(s) -
Wilmotte R.,
Miraglia del Giudice E.,
Marechal J.,
Perrotta S.,
Mattia D. de,
Delaunay J.,
Iolascon A.
Publication year - 1994
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1994.tb05051.x
Subject(s) - spectrin , frameshift mutation , missense mutation , genetics , microbiology and biotechnology , biology , nonsense mutation , nonsense , gene , mutation , cytoskeleton , cell
Summary. We studied a clinically manifest. dominantly transmitted elliptocytosis in an Italian family. We found a new spectrin variant, designated spectrin Napoli. Its β‐chain was truncated in its C‐terminal region (apparent MW 216kD. It its C‐terminal region (apparent MW 216kD. It displayed a low expression level (15%). There was a 8 nt deletion; CTTTTGAGAAGT → CTGT (nt 62556262), starting after condon 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 (CTTGAG0. The overall length of the mutrated β‐chain was comparable to that found in spectrin Nice, spectrin Tokyo and spectrin Tandil, which are other variants with truncated β‐chains; however, a distinct nonsense codon was used in spectrin Napoli.