Oguchi type I caused by a homozygous missense variation in the SAG gene

被引：6

作者：

Colombo, Leonardo ^{[1
]}

Abeshi, Andi ^{[2
]}

Maltese, Paolo E. ^{[2
]}

Frecer, Vladimir ^{[3
,4
]}

Miertus, Jan ^{[5
]}

Cerra, Davide ^{[2
]}

Bertelli, Matteo ^{[2
]}

Rossetti, Luca ^{[1
]}

机构：

[1] Univ Milan, San Paolo Hosp, Dept Ophthalmol, Via A Di Rudini 8, I-20142 Milan, Italy

[2] MAGIs Lab, Rovereto, Italy

[3] Comenius Univ, Fac Pharm, Dept Phys Chem Drugs, Bratislava 83232, Slovakia

[4] Int Ctr Appl Res & Sustainable Technol ICARST No, Bratislava 84104, Slovakia

[5] Genius, Starohajska 2, Trnava 91701, Slovakia

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2019年 / 62卷 / 09期

关键词：

Oguchi disease; SAG; Night blindness; Novel mutation; ARRESTIN GENE; NONSENSE MUTATION; JAPANESE PATIENTS; GRK1; GENE; S-ANTIGEN; DISEASE; DELETION;

D O I：

10.1016/j.ejmg.2018.09.015

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Oguchi disease, is a very rare form of night blindness caused by biallelic variations in the SAG or GRK1 genes, both involved in rod restoration after light stimuli. Here we report the clinical and genetic findings of an 8-year old boy with a history of reduced visual acuity, nyctalpia and hemeralopia. Clinical findings, in particular the Mizuo-Nakamura phenomenon, were compatible with a diagnosis of Oguchi disease. Genetic testing revealed a novel missense homozygous variation in the SAG gene. This is the first evidence that the disease can be caused by missense variations in this gene.

引用

页数：7

共 23 条

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