Argent A C, Chetty M C, Fricke B, Bertrand Y, Philippe N, Khogali S, von Düring M, Delaunay J, Stewart G W
Department of Medicine, University College London School of Medicine, Rayne Institute, London, UK.
J Inherit Metab Dis. 2004;27(1):29-46. doi: 10.1023/B:BOLI.0000016624.21475.de.
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.
本文描述了一名法国儿童的病例，其父母为有突尼斯血统的近亲。该儿童患有严重的多系统疾病，包括异常红细胞生成性、铁粒幼细胞性贫血、伴有肌张力减退和惊厥的神经发育迟缓、失盐性肾病、慢性水样腹泻、伴有线粒体功能障碍的乳酸性酸中毒、脆发、高球蛋白血症、伴有间歇性转氨酶升高的脂肪肝以及终末期肺纤维化。有两个同胞，一男一女，均为死产；另外两个存活时间也很短。有一个姐姐健在且健康。对红细胞膜进行十二烷基硫酸钠聚丙烯酰胺凝胶（SDS）分析显示，在32 kDa处的“带7”存在缺陷。对编码“血影蛋白”（即“红细胞膜蛋白7.2b”，“带7”的主要蛋白质）的基因进行分析发现，一系列复杂的异常剪接形式集中在外显子3周围，未发现可解释的基因组病变。这种疾病真正的潜在分子病因仍不清楚，但这表明应在其他病例中研究血影蛋白基因。
