A family showing recessively inherited multisystem pathology with aberrant splicing of the erythrocyte Band 7.2b ('stomatin') gene.
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| Abstract |
The case of a French child, born of consanguineous parents of Tunisian origin, is described. He showed a severe multisystem disease with dyserythropoietic, sideroblastic anaemia, delayed neurological development with hypotonia and convulsions, salt-losing nephropathy, chronic watery diarrhoea, lactic acidosis with mitochondrial dysfunction, brittle hair, hypergammaglobulinaemia, fatty liver with intermittent transaminasaemia, and terminal pulmonary fibrosis. Two siblings, of both sexes, were stillborn; two more lived only a short time. One sister is alive and well. SDS gel analysis of the red cell membranes showed a deficiency within 'Band 7' at 32 kDa. Analysis of the gene encoding 'stomatin', or 'erythrocyte membrane protein 7.2b', the principal protein of 'Band 7', revealed a complex series of aberrant spliceforms centred around exon 3, for which no explanatory genomic lesion could be found. The true underlying molecular cause of this condition remains obscure, but it suggests that the stomatin gene should be studied in other cases.
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| Authors | A C Argent, M C Chetty, B Fricke, Y Bertrand, N Philippe, S Khogali, M von Düring, J Delaunay, G W Stewart |
| Journal | Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 27 Issue 1 Pg. 29-46 ( 2004) ISSN: 0141-8955 [Print] United States |
| PMID | 14970744 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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