Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

N Dalla Venezia; F Gilsanz; N Alloisio; M T Ducluzeau; E J Benz; J Delaunay

doi:10.1172/JCI116044

Centre National de la Recherche Scientifique Unité de Recherche Associée 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

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Centre National de la Recherche Scientifique Unité de Recherche Associée 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

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Centre National de la Recherche Scientifique Unité de Recherche Associée 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

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Centre National de la Recherche Scientifique Unité de Recherche Associée 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

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Centre National de la Recherche Scientifique Unité de Recherche Associée 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

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Centre National de la Recherche Scientifique Unité de Recherche Associée 1171, Faculté de Médecine Grange-Blanche, Lyon, France.

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Published in Volume 90, Issue 5 on November 1, 1992
J Clin Invest. 1992;90(5):1713–1717. https://doi.org/10.1172/JCI116044.
© 1992 The American Society for Clinical Investigation

Published November 1, 1992 - Version history

We studied a 43 yr-old Spanish patient with homozygous 4.1(-) hereditary elliptocytosis. Any form of protein 4.1 was missing in the red cells. Spectrin and actin were slightly, yet significantly, diminished. Alterations appeared at the level of proteins 4.5 and 4.9. Glycophorin C was sharply reduced. The abnormal allele was associated with the -++-- haplotype (Pvu II, Bgl II, Bgl II, Pvu II, Pvu II). mRNA 4.1(-) had an apparently normal size but was diminished by about two-thirds. Because the abnormal phenotype pertained to the red cell, we sequenced the 4.1 cDNA regions that appear critical to this cell type. The ultimate change turned out to be a point mutation of the downstream translation initiation codon (AUG-->AGG). No disorders in other cell types could be related with certainty to the present 4.1(-) HE allele.

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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

N Dalla Venezia, F Gilsanz, N Alloisio, M T Ducluzeau, E J Benz Jr, and J Delaunay

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Homozygous 4.1(-) hereditary elliptocytosis associated with a point mutation in the downstream initiation codon of protein 4.1 gene.

N Dalla Venezia, F Gilsanz, N Alloisio, M T Ducluzeau, E J Benz Jr, and J Delaunay

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