11-cis视黄醇脱氢酶突变的主要原因先天性夜盲症障碍称为眼底albipunctatus。
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保Gonzalez-Fernandez F, Kurz D, Y,纽曼年代,康威BP,年轻的我,汉DP,造成SC
11-cis视黄醇脱氢酶突变的主要原因先天性夜盲症障碍称为眼底albipunctatus。
摩尔粘度1999年12月30日,41。
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10617778 (在PubMed]
- 文摘
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目的:患者眼底albipunctatus统一在夜间视觉经验困难。他们的视网膜斑点特征淡黄色斑点的未知成分,通常黄斑。缺陷在运输或利用视觉周期类维生素A变量被认为是这种隐性疾病的基础与临床表现。阐明基因的分子缺陷我们考虑interphotoreceptor retinoid-binding蛋白质(RBP3)和11-cis视黄醇脱氢酶(RDH5)候选人这种疾病。方法:我们研究了两个家庭眼底albipunctatus无关。临床诊断是确定和RBP3 RDH5分析分子筛选方法和直接的基因组测序。结果:每个家庭有两个影响与典型的眼底albipunctatus成员。受影响的成员影响父母兄弟姐妹的出生是第七个堂兄弟在第一家庭和第二家庭无关。两家的渊源者临床相似,除了底部点更广泛的第二个家庭的涉及parafoveal地区。在初始阶段的基因筛查RBP3缺陷被排除在家庭疾病的原因。 In contrast, RDH5 mutations were found in the affected siblings in both families. The proband in one had a homozygotic Gly238Trp missense mutation (GGG -> TGG) involving exon 4 and in the other carried compound heterozygotic changes Arg280His (CGC -> CAC) and Ala294Pro (GCC -> CCC) in exon 5. The disease phenotype was only manifested in family members with two abnormal RDH5 alleles consistent with autosomal recessive inheritance in both pedigrees. CONCLUSIONS: These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity.