Autosomal Dominant Retinitis Pigmentosa Secondary to Pre-mRNA Splicing-Factor Gene PRPF31 (RP11): Review of Disease Mechanism and Report of a Family with a Novel 3-Base Pair Insertion

被引：16
|
作者：
Utz, Virginia M. [1 ]
Beight, Craig D. [1 ]
Marino, Meghan J. [1 ]
Hagstrom, Stephanie A. [1 ,2 ]
Traboulsi, Elias I. [1 ,2 ]
机构：
[1] Cleveland Clin, Cole Eye Inst, Cleveland, OH 44106 USA
[2] Case Western Reserve Univ, Cleveland Clin, Lerner Coll Med, Cleveland, OH 44106 USA
来源：
OPHTHALMIC GENETICS | 2013年 / 34卷 / 04期
关键词：
Autosomal dominant; incomplete penetrance; PRPF31; retinitis pigmentosa; spliceosome; INCOMPLETE PENETRANCE; BIMODAL EXPRESSIVITY; REDUCED PENETRANCE; CHROMOSOME; 19Q; MUTATIONS; LOCUS; ASSOCIATION; PROTEIN; IDENTIFICATION; SPLICEOSOME;
D O I：
10.3109/13816810.2012.762932
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Several forms of autosomal dominant retinitis pigmentosa (adRP) are caused by mutations in genes encoding proteins that are ubiquitously expressed and involved in the pre-mRNA spliceosome such as PRPF31. This paper provides an overview of the molecular genetics, pathophysiology, and mechanism for incomplete penetrance and retina-specific disease in pedigrees of families who harbor mutations in PRPF31 (RP11). The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene.
引用
收藏
页码：183 / 188
页数：6
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