Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.
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DOI：
10.1186/1471-2350-11-145
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发表时间：
2010-10-12
影响因子：
--
通讯作者：
Zeitz C
中科院分区：
文献类型：
--
作者：
Audo I;Bujakowska K;Mohand-Saïd S;Lancelot ME;Moskova-Doumanova V;Waseem NH;Antonio A;Sahel JA;Bhattacharya SS;Zeitz C
视杆-视锥营养不良是一组异质性遗传性视网膜疾病，其临床和遗传特征均为感光细胞变性。遗传方式可以是常染色体显性、常染色体隐性或X连锁。本研究的目的是确定法国常染色体显性遗传RP患者的PRPF 31基因突变，对这些患者进行基因型-表型相关性分析，确定该队列中PRPF 31突变的患病率，并回顾先前从其他队列中确定的PRPF 31突变。进行详细的表型表征，包括精确的家族史、使用ETDRS视力表的最佳矫正视力、裂隙灯检查、动态和静态视野检查、全视野和多焦ERG、眼底自发荧光成像和光学相干断层扫描。对于遗传诊断，通过标准方法分离90个家庭的基因组DNA。PCR扩增PRPF 31的编码外显子和侧翼内含子区，纯化并测序。我们首次发现法国adRP队列中6.7%的病例有PRPF 31突变。我们总共鉴定了六种突变，它们都是新的，在种族匹配的对照中没有检测到。来自我们的组群的突变谱包括移码和剪接位点突变。在可用的家庭成员的共分离分析显示，每个索引患者和所有受影响的家庭成员表现出杂合突变。在五个家庭中观察到了不完全性行为。大多数患者表现为典型的RP体征，中心视力和视野相对保留。我们的研究扩展了PRPF 31的突变谱，正如以前在其他人群中报道的那样，它是法国adRP的主要原因。
Rod-cone dystrophies are heterogeneous group of inherited retinal disorders both clinically and genetically characterized by photoreceptor degeneration. The mode of inheritance can be autosomal dominant, autosomal recessive or X-linked. The purpose of this study was to identify mutations in one of the genes, PRPF31, in French patients with autosomal dominant RP, to perform genotype-phenotype correlations of those patients, to determine the prevalence of PRPF31 mutations in this cohort and to review previously identified PRPF31 mutations from other cohorts. Detailed phenotypic characterization was performed including precise family history, best corrected visual acuity using the ETDRS chart, slit lamp examination, kinetic and static perimetry, full field and multifocal ERG, fundus autofluorescence imaging and optic coherence tomography. For genetic diagnosis, genomic DNA of ninety families was isolated by standard methods. The coding exons and flanking intronic regions of PRPF31 were PCR amplified, purified and sequenced in the index patient. We showed for the first time that 6.7% cases of a French adRP cohort have a PRPF31 mutation. We identified in total six mutations, which were all novel and not detected in ethnically matched controls. The mutation spectrum from our cohort comprises frameshift and splice site mutations. Co-segregation analysis in available family members revealed that each index patient and all affected family members showed a heterozygous mutation. In five families incomplete penetrance was observed. Most patients showed classical signs of RP with relatively preserved central vision and visual field. Our studies extended the mutation spectrum of PRPF31 and as previously reported in other populations, it is a major cause of adRP in France.
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影响因子：
15.9
作者：
Frio, Thomas Rio;Wade, Nicholas M.;Rivolta, Carlo
通讯作者：
Rivolta, Carlo
影响因子：
4.4
作者：
Martínez-Gimeno, M;Gamundi, MJ;Carballo, M
通讯作者：
Carballo, M
影响因子：
3.9
作者：
Frio, Thomas Rio;McGee, Terri L.;Wade, Nicholas M.;Iseli, Christian;Beckmann, Jacques S.;Berson, Eliot L.;Rivolta, Carlo
通讯作者：
Rivolta, Carlo
影响因子：
4.4
作者：
Sullivan, Lori S.;Bowne, Sara J.;Daiger, Stephen P.
通讯作者：
Daiger, Stephen P.
RP 基因 PRPF31 中新型剪接突变的鉴定和功能表征。
DOI：
10.1016/j.bbrc.2007.12.156
发表时间：
2008-03-07
影响因子：
3.1
作者：
Liu, Jing Yu;Dai, Xiaohua;Wang, Qing K.
通讯作者：
Wang, Qing K.