The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa

被引：3

作者：

Mihailovic, Natasa ^{[1
,2
]}

Schimpf-Linzenbold, Simone ^{[3
]}

Sattler, Inga ^{[3
]}

Eter, Nicole ^{[1
]}

Heiduschka, Peter ^{[1
]}

机构：

[1] Univ Munster, Dept Ophthalmol, Med Ctr, Munster, Germany

[2] Univ Marburg, Dept Ophthalmol, Klinikum Fulda, Campus Fulda, Fulda, Germany

[3] Praxis Fuer Humangenet & CeGaT GmbH, Zentrum Humangenet Tubingen, Tubingen, Germany

来源：

OPHTHALMIC GENETICS | 2022年 / 43卷 / 05期

关键词：

RP; AAV; phenotype; codon-optimization; inherited retinal diseases;

D O I：

10.1080/13816810.2022.2083181

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a family of X-linked retinitis pigmentosa (xlRP), showing the deletion of the entire RPGR gene. Gene therapy for inherited retinal diseases holds great promise; however, so far there has been no approved treatment of RPGR-mediated retinitis pigmentosa. The presented evidence of genotype-phenotype correlation may be useful for genetic diagnosis or even genetic treatment in the near future.

引用

页码：679 / 684

页数：6

共 9 条

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