两名无亲缘关系的女孩因相同的UBR1突变导致乔汉森-布里扎德综合征，其中一名患有心肌病。
Johanson-Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy.
作者信息
Elting Mariet, Kariminejad Ariana, de Sonnaville Marie-Louise, Ottenkamp Jaap, Bauhuber Susanne, Bozorgmehr Bita, Zenker Martin, Cobben Jan M
机构信息
Department of Pediatrics, Emma Children's Hospital, AMC Amsterdam, The Netherlands.
出版信息
Am J Med Genet A. 2008 Dec 1;146A(23):3058-61. doi: 10.1002/ajmg.a.32566.
We report on two apparently unrelated girls with Johanson-Blizzard syndrome (JBS), in both children caused by a homozygous IVS26+5G>A mutation in the UBR1 gene. In both cases the parents are consanguineous and more sibs are affected. The somewhat mild phenotype (with no or slight mental retardation) in these two JBS families might be explained by residual UBR1 activity. One case has a dilated cardiomyopathy, a symptom only rarely reported in JBS, but of important clinical significance.
我们报告了两名患有乔汉森-暴雪综合征（JBS）的明显无血缘关系的女孩，这两名儿童均由UBR1基因中的纯合IVS26 + 5G>A突变引起。在这两个案例中，父母均为近亲，且更多同胞受到影响。这两个JBS家族中 somewhat mild phenotype（无或轻度智力迟钝）可能由残余的UBR1活性来解释。其中一个病例患有扩张型心肌病，这是JBS中很少报道的症状，但具有重要的临床意义。
注
原文中“somewhat mild phenotype”直接保留英文未翻译，因为不太明确准确对应的中文表述，可能存在信息缺失或有误表述的情况。
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