视黄醇脱氢酶 12 （ RDH12 ）中的新型杂合缺失导致家族性常染色体显性视网膜色素变性。Novel Heterozygous Deletion in Retinol Dehydrogenase 12 (RDH12) Causes Familial Autosomal Dominant Retinitis Pigmentosa.-医云文献数字医云科研云海量医学决策数据服务

Abstract：

Mutations in the retinol dehydrogenase 12 (RDH12) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy. Only one family with a heterozygous variant, associated with mild retinitis pigmentosa (RP), has been reported. We report a novel heterozygous variant [(c.759del; p.(Phe254Leufs∗24)], resulting in a frameshift and premature termination identified in two unrelated individuals with familial autosomal dominant RP. Both heterozygous variants are associated with a late onset RP phenotype, suggesting a possible genotype-phenotype correlation.

摘要：

视黄醇脱氢酶12（RDH12）基因的突变主要与Leber先天性黑蒙（LCA）13型有关，这是一种严重的早发性常染色体隐性遗传性视网膜营养不良。只有一个具有杂合变体的家族，与轻度视网膜色素变性（RP）相关，已被报道。我们报告了一种新的杂合变体[(c.759del;p.(Phe254Leufs*24)]，导致在两个具有家族性常染色体显性RP的无关个体中发现的移码和过早终止。两种杂合变体都与迟发性RP表型相关，提示可能的基因型-表型相关性。