Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa.
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外显子组测序在一个患有严重早发性视网膜色素变性的家庭中发现了隐性 RDH12 突变。
DOI：
10.1155/2015/942740
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发表时间：
2015
影响因子：
1.9
通讯作者：
Zhang H
中科院分区：
文献类型：
--
作者：
Gong B;Wei B;Huang L;Hao J;Li X;Yang Y;Zhou Y;Hao F;Cui Z;Zhang D;Wang L;Zhang H
色素性视网膜炎（RP）是由视网膜感光细胞进行性变性引起的一种重要的遗传性视网膜疾病。本研究旨在利用新一代测序技术在一个中国家庭中鉴定常染色体隐性视网膜色素变性（arRP）的基因突变。研究了一个中国家庭，共7人，其中2人患有严重早发性RP。所有患者都接受了全面的眼科检查。对单个RP患者（该家族的先证者）进行外显子组测序，并对其他家族成员和正常对照进行直接Sanger测序以确认因果突变。视黄醇脱氢酶12 （RDH12）基因中编码nadph依赖性视网膜还原酶的纯合突变c.437T<A （p.V146D）被鉴定为与该arRP家族的表型相关。在两名受影响的患者中检测到这种纯合突变，但在其他家庭成员和600名正常对照中未发现这种突变。该家族的另外三个正常成员被发现携带这种杂合错义突变。我们的研究结果强调了c.437T<A （p.V146D）在RDH12中的重要性，并进一步支持了该突变在RP发病机制和临床诊断中的致病作用。
Retinitis pigmentosa (RP) is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP) in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family) and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437T<A (p.V146D) in the retinol dehydrogenase 12 (RDH12) gene, which encodes an NADPH-dependent retinal reductase, was identified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T<A (p.V146D) substitution in RDH12 and provide further support for the causative role of this mutation in the pathogenesis and clinical diagnosis of RP.
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影响因子：
64.8
作者：
通讯作者：
--
影响因子：
3.9
作者：
Neveling, Kornelia;Collin, Rob W. J.;Gilissen, Christian;van Huet, Ramon A. C.;Visser, Linda;Kwint, Michael P.;Gijsen, Sabine J.;Zonneveld, Marijke N.;Wieskamp, Nienke;de Ligt, Joep;Siemiatkowska, Anna M.;Hoefsloot, Lies H.;Buckley, Michael F.;Kellner, Ulrich;Branham, Kari E.;den Hollander, Anneke I.;Hoischen, Alexander;Hoyng, Carel;Klevering, B. Jeroen;van den Born, L. Ingeborgh;Veltman, Joris A.;Cremers, Frans P. M.;Scheffer, Hans
通讯作者：
Scheffer, Hans
影响因子：
2.9
作者：
Belyaeva, OV;Korkina, OV;Kedishvili, NY
通讯作者：
Kedishvili, NY
影响因子：
3.1
作者：
Yucel-Yilmaz, Didem;Tarlan, Bercin;Ozgul, Riza Koksal
通讯作者：
Ozgul, Riza Koksal
影响因子：
30.8
作者：
Janecke, AR;Thompson, DA;Gal, A
通讯作者：
Gal, A