一名点状白化性视网膜病变患者的细胞视黄醛结合蛋白基因（RLBP1）中存在一种新型复合杂合突变。
A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens.
作者信息
Demirci F Yesim K, Rigatti Brian W, Mah Tammy S, Gorin Michael B
机构信息
Department of Ophthalmology, School of Medicine, University of Pittsburgh, 203 Lothrop Street, Pittsburgh, PA 15213, USA.
出版信息
Am J Ophthalmol. 2004 Jul;138(1):171-3. doi: 10.1016/j.ajo.2004.02.060.
PURPOSE
To describe a patient with retinitis punctata albescens (RPA) associated with compound heterozygosity for two novel mutations in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP).
DESIGN
Observational case report.
METHODS
The proband underwent a complete ophthalmic examination and leukocyte genomic DNA samples were obtained from him and his parents. The RLBP1 exons were analyzed by direct sequencing of PCR-amplified fragments.
RESULTS
The patient had a clinical phenotype suggestive of slowly progressive RPA, characterized by numerous yellow-white dots in the fundus. The RLBP1 sequence analysis revealed a novel compound heterozygotic mutation of Gly145Asp and Ile200Thr transmitted from the mother and father, respectively. Analysis of 100 control chromosomes showed no individuals with these sequence alterations.
CONCLUSIONS
Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations. These additional mutations will aid ongoing functional studies and add to our understanding of the molecular pathology pertaining to RLBP1-associated retinopathies.
目的
描述一名患有白点状视网膜变性（RPA）的患者，其与编码细胞视黄醛结合蛋白（CRALBP）的RLBP1基因中的两个新突变的复合杂合性相关。
设计
观察性病例报告。
方法
先证者接受了全面的眼科检查，并从他及其父母那里获取了白细胞基因组DNA样本。通过对PCR扩增片段进行直接测序来分析RLBP1外显子。
结果
该患者具有提示缓慢进展性RPA的临床表型，其特征是眼底有许多黄白色小点。RLBP1序列分析显示分别从母亲和父亲遗传而来的Gly145Asp和Ile200Thr的新型复合杂合突变。对100条对照染色体的分析显示没有个体具有这些序列改变。
结论
迄今为止仅报道了8种RLBP1突变，在此我们描述了两种新突变。这些额外的突变将有助于正在进行的功能研究，并增进我们对与RLBP1相关视网膜病变的分子病理学的理解。
Zotero 插件