IDH3A基因中的一种新型错义变异导致常染色体隐性遗传性视网膜色素变性。
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.
作者信息
Peter Virginie G, Nikopoulos Konstantinos, Quinodoz Mathieu, Granse Lotta, Farinelli Pietro, Superti-Furga Andrea, Andréasson Sten, Rivolta Carlo
机构信息
a Department of Computational Biology, Unit of Medical Genetics , University of Lausanne , Lausanne , Switzerland.
b Department of Genetics and Genome Biology , University of Leicester , Leicester , UK.
出版信息
Ophthalmic Genet. 2019 Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23.
BACKGROUND
Inherited retinal degenerations (IRDs) encompass a wide spectrum of genetic ocular diseases characterized by considerable genetic and clinical heterogeneity.
METHODS
Complete ophthalmic examination and next-generation sequencing.
RESULTS
We describe a patient with no family history of vision loss, who at the age of 28 years developed visual impairment consistent with a severe form of retinitis pigmentosa. Genetic testing by means of whole exome sequencing identified a homozygous variant in the gene IDH3A. To date, only three papers have reported mutations in IDH3A, in families with early-onset retinal degeneration with or without the presence of macular pseudocoloboma.
CONCLUSION
This study highlights the importance of including this rarely-mutated gene in the molecular diagnostic set-ups for IRDs, and further delineates the phenotypic spectrum elicited by mutations in IDH3A.
背景
遗传性视网膜变性（IRD）涵盖了广泛的遗传性眼部疾病，其特征是具有显著的遗传和临床异质性。
方法
进行全面的眼科检查和下一代测序。
结果
我们描述了一名无视力丧失家族史的患者，该患者在28岁时出现了与严重色素性视网膜炎一致的视力损害。通过全外显子组测序进行的基因检测在IDH3A基因中鉴定出一个纯合变异。迄今为止，仅有三篇论文报道了IDH3A基因的突变，这些报道来自有或没有黄斑假性缺损的早发性视网膜变性家族。
结论
本研究强调了将这个罕见突变基因纳入IRD分子诊断体系的重要性，并进一步描绘了由IDH3A基因突变引发的表型谱。
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