RGD Reference Report - Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. - Rat Genome Database

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Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

Authors: Alloisio, N  Texier, P  Vallier, A  Ribeiro, ML  Morle, L  Bozon, M  Bursaux, E  Maillet, P  Goncalves, P  Tanner, MJ  Tamagnini, G  Delaunay, J 
Citation: Alloisio N, etal., Blood. 1997 Jul 1;90(1):414-20.
RGD ID: 10450506
Pubmed: (View Article at PubMed) PMID:9207478

We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG --> ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozygotes, it yielded a mild form of hereditary spherocytosis (HS) with band 3 deficiency (-20% +/- 2%) and a reduced number of 4,4'-diisothiocyano-1,2-diphenylethane-2,2'-disulfonate (H2DIDS) binding sites (-35%). However, two additional heterozygotes presented with an aggravated HS and a more pronounced reduction of band 3 (-40%) and of H2DIDS binding sites (-48%). They carried, in trans to allele Coimbra, allele Mondego, defined by two mutations: E40K, GAG --> AAG, the known mutation Montefiore, and P147S, CCT --> TCT, a novel mutation, both located in the cytoplasmic domain of band 3. Allele Mondego itself resulted in no clinical or hematologic HS signs in the simple heterozygous state. Yet it yielded a slight decrease in band 3 (-6% to -12%) and in the number of H2DIDS binding sites (-19%). Thus, the more pronounced decrease in band 3 in the two compound heterozygotes derived from the additive effects of two unequally expressed AE1 alleles, resulting in a more severe clinical picture.

Annotation

Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Slc4a1  (solute carrier family 4 member 1 (Diego blood group))

Genes (Mus musculus)
Slc4a1  (solute carrier family 4 (anion exchanger), member 1)

Genes (Homo sapiens)
HRAS  (HRas proto-oncogene, GTPase)
SLC4A1  (solute carrier family 4 member 1 (Diego blood group))


Additional Information