A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

Peter Virginie G.; Nikopoulos Konstantinos; Quinodoz Mathieu; Granse Lotta; Farinelli Pietro; Superti-Furga Andrea; Andreasson Sten; Rivolta Carlo

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A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

机译：IDH3A中的一种新型畸形变体导致常染色体隐性视网膜炎Pigmentosa

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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 28years 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.

机译：背景：遗传性视网膜退化（IRDS）包括广泛的遗传眼部疾病，其特征在于相当大的遗传和临床异质性。方法：完全眼科检查和下一代测序。结果：我们描述了一个没有视力丧失家族历史的患者，他在28岁时发育了符合严重的视网膜炎的视觉损伤。通过整体exome测序鉴定基因IDH3A中的纯合变体的遗传测试。迄今为止，只有三篇论文在IDH3A中报告了IDH3A的突变，在具有或不存在黄斑假菌瘤的存在或不存在黄斑的视网膜变性的家庭中。结论：本研究突出了在IRDS的分子诊断组中包括这种很少突变的基因的重要性，并进一步描绘了IDH3A中突变引发的表型光谱。

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来源
《Ophthalmic genetics》 |2019年第2期|共5页
作者
Peter Virginie G.; Nikopoulos Konstantinos; Quinodoz Mathieu; Granse Lotta; Farinelli Pietro; Superti-Furga Andrea; Andreasson Sten; Rivolta Carlo;
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作者单位

Univ Lausanne Dept Computat Biol Unit Med Genet Rue Bugnon 27 CH-1011 Lausanne Switzerland;

Univ Lausanne Dept Computat Biol Unit Med Genet Rue Bugnon 27 CH-1011 Lausanne Switzerland;

Univ Lausanne Dept Computat Biol Unit Med Genet Rue Bugnon 27 CH-1011 Lausanne Switzerland;

Lund Univ Dept Ophthalmol Lund Sweden;

Univ Copenhagen Dept Biol Copenhagen OE Denmark;

Lausanne Univ Hosp CHUV Serv Med Genet Lausanne Switzerland;

Lund Univ Dept Ophthalmol Lund Sweden;

Univ Lausanne Dept Computat Biol Unit Med Genet Rue Bugnon 27 CH-1011 Lausanne Switzerland;

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正文语种 eng
中图分类眼科学;
关键词
IDH3A; retinitis pigmentosa; isocitrate dehydrogenase;

机译：IDH3A;视网膜炎;异柠檬酸脱氢酶;
入库时间 2022-08-20 05:21:01

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专利

1. A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa [J] . Peter Virginie G., Nikopoulos Konstantinos, Quinodoz Mathieu, Ophthalmic genetics . 2019,第2期

机译：IDH3A中的一种新型畸形变体导致常染色体隐性视网膜炎Pigmentosa
2. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa [J] . Nana Hsiang-Hua Wang, Shih-Jen Chen, Chi-Fan Yang, Investigative ophthalmology & visual science . 2016,第8期

机译：纯合性映射和全基因组测序将POMGNT1的错义突变链接到常染色体隐性视网膜炎色素沉着。
3. Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa [J] . Wang Nana Hsiang-Hua, Chen Shih-Jen, Yang Chi-Fan, Investigative ophthalmology & visual science . 2016,第8期

机译：纯合理测绘和全基因组测序将POMGNT1中的畸形突变链接到常染色体隐性视网膜炎PIGMENTOSA
4. Measuring dysfunction of cone photoreceptors in retinitis pigmentosa with phase-sensitive AO-OCT [C] . Ayoub Lassoued, Furu Zhang, Kazuhiro Kurokawa, Conference on ophthalmic technologies . 2020

机译：用相敏AO-OCT测量色素性视网膜炎中视锥细胞感光功能障碍
5. Investigation of daily four month sildenafil administration on heterozygous carriers of a phosphodiesterase 6 mutation in a canine model of autosomal recessive retinitis pigmentosa. [D] . Pierce, Kenneth E., Jr. 2011

机译：在常染色体隐性遗传性视网膜炎的犬模型中，每天四个月西地那非对磷酸二酯酶6突变的杂合子载体给药的研究。
6. A Missense Mutation in DHDDS Encoding Dehydrodolichyl Diphosphate Synthase Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews [O] . Lina Zelinger, Eyal Banin, Alexey Obolensky, 2011

机译：DHDDS的错义突变编码脱氢二氢二磷酸二磷酸合酶与Ashkenazi犹太人的常染色体隐性视网膜炎色素沉着有关。
7. A Missense Mutation in DHDDS, Encoding Dehydrodolichyl Diphosphate Synthase, Is Associated with Autosomal-Recessive Retinitis Pigmentosa in Ashkenazi Jews [O] . Zelinger, Lina, Banin, Eyal, Obolensky, Alexey, 2011

机译：DHDDS的错义突变，编码脱氢二氢二磷酸二磷酸合酶，与Ashkenazi犹太人的常染色体隐性视网膜炎色素沉着有关。

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

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