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Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene
associated with severe poikilocytic anemia
CM Fournier, G Nicolas, PG Gallagher, D Dhermy, B Grandchamp and MC Lecomte
INSERM U409, Faculte de Medecine Xavier Bichat, Paris, France.
An alpha-spectrin variant with increased susceptibility to tryptic
digestion, alpha(II/47), was previously observed in a child with severe,
recessively inherited, poikilocytic anemia. The molecular basis of this
variant, spectrin St Claude, has now been identified as a splicing mutation
of the alpha-spectrin gene due to a T --> G mutation in the 3' acceptor
splice site of exon 20. This polypyrimidine tract mutation creates a new
acceptor splice site, AT --> AG, and leads to the production of two
novel mRNAs. One mRNA contains a 12 intronic nucleotide insertion upstream
of exon 20. This insertion introduces a termination codon into the reading
frame and is predicted to encode a truncated protein (108 kD) that lacks
the nucleation site and thus cannot be assembled in the membrane. In the
other mRNA, there is in- frame skipping of exon 20, predicting a truncated
(277 kD) alpha- spectrin chain. The homozygous propositus has only
truncated 277 kD alpha-spectrin chains in his erythrocyte membranes. His
heterozygous parents are clinically and biochemically normal. This allele
was identified in 3% of asymptomatic individuals from Benin, Africa.
Volume 89,
Issue 12,
pp. 4584-4590,
06/15/1997
Copyright © 1997 by The American Society of Hematology
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