Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.
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PRPF3 的两个新突变导致常染色体显性视网膜色素变性
DOI：
10.1038/srep37840
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发表时间：
2016-11-25
影响因子：
4.6
通讯作者：
Chen J
中科院分区：
文献类型：
--
作者：
Zhong Z;Yan M;Sun W;Wu Z;Han L;Zhou Z;Zheng F;Chen J
视网膜色素变性（RP）是一种异质性遗传性眼病，其特征是视网膜感光细胞的选择性死亡，导致进行性视力损害。大约20-40%的RP病例是常染色体显性RP（ADRP）。本研究通过全外显子组测序技术对一个位于D1 S2819和D1 S2635之间的中国ADRP家族进行了测序，并在PRPF 3中鉴定出一个变异体c.1345C > G（p.R449G）。对另外95个ADRP家系的先证者进行桑格测序，以研究PRPF 3在中国人群ADRP中的贡献，并在一个家系中检测到另一种变异c.1532A > C（p.H511P）。这两种变异分别在两个家系中与RP共分离，并且这两种变异都被预测为病理性的。这是首次报道中国人群PRPF 3突变谱，导致两个新的PRPF 3突变的鉴定。到目前为止，在几个人群中只发现了PRPF 3的三个簇状突变，并且都在外显子11中。我们的研究扩大了RP中PRPF 3突变的范围。我们还证明，PRPF 3突变负责在这个队列中的ADRP家庭的2.08%，表明PRPF 3突变可能是相对罕见的中国ADRP患者。
Retinitis pigmentosa (RP) is a heterogeneous set of hereditary eye diseases, characterized by selective death of photoreceptor cells in the retina, resulting in progressive visual impairment. Approximately 20–40% of RP cases are autosomal dominant RP (ADRP). In this study, a Chinese ADRP family previously localized to the region between D1S2819 and D1S2635 was sequenced via whole-exome sequencing and a variant c.1345C > G (p.R449G) was identified in PRPF3. The Sanger sequencing was performed in probands of additional 95 Chinese ADRP families to investigate the contribution of PRPF3 to ADRP in Chinese population and another variant c.1532A > C (p.H511P) was detected in one family. These two variants, co-segregate with RP in two families respectively and both variants are predicted to be pathological. This is the first report about the spectrum of PRPF3 mutations in Chinese population, leading to the identification of two novel PRPF3 mutations. Only three clustered mutations in PRPF3 have been identified so far in several populations and all are in exon 11. Our study expands the spectrum of PRPF3 mutations in RP. We also demonstrate that PRPF3 mutations are responsible for 2.08% of ADRP families in this cohort indicating that PRPF3 mutations might be relatively rare in Chinese ADRP patients.
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DOI：
10.1007/s00417-004-0923-x
发表时间：
2004-11-01
影响因子：
2.7
作者：
Wada, Y;Itabashi, T;Tamai, M
通讯作者：
Tamai, M
影响因子：
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作者：
Martínez-Gimeno, M;Gamundi, MJ;Carballo, M
通讯作者：
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影响因子：
3.5
作者：
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通讯作者：
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影响因子：
3.5
作者：
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通讯作者：
Bhattacharya, SS
影响因子：
4.4
作者：
Sullivan, Lori S.;Bowne, Sara J.;Daiger, Stephen P.
通讯作者：
Daiger, Stephen P.