Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
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DOI：
10.1155/2015/819760
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发表时间：
2015
影响因子：
1.9
通讯作者：
Takahashi M
中科院分区：
文献类型：
--
作者：
Arai Y;Maeda A;Hirami Y;Ishigami C;Kosugi S;Mandai M;Kurimoto Y;Takahashi M
这项研究的目的是获得有关日本人群中疾病患病率的信息，并确定遗传性视网膜营养不良(IRD)的相关基因。对349例IRD患者进行了临床和分子生物学评价。在种族隔离分析中，他们的63名家庭成员被雇用。1208名日本人的生物信息学数据作为对照。对于视网膜色素变性患者，分子诊断是通过采用一组或两组15和27个基因的分步直接测序获得的。如果怀疑某一特定的临床诊断，则进行疾病特异性基因的直接测序，即针对Stargardt病的ABCA4。家庭内部信息的有限和家庭规模的缩小阻碍了遗传模式的识别。从欧洲和北美人群中获得了Stargardt病患病率较低的不同疾病概况。在349个先证者中的159个个体中发现205个序列变异，识别率为45.6%。这项研究发现了43个新的序列变体。计算机分析表明，25个新的错义变异中有20个是致病的。EYS基因突变的发生率最高，为23.5%。C.4957_4958insA和C.8868C>；A是该队列中发现的两个主要的EYS突变。EYS突变是日本IRD患者中最常见的突变。
The aim of this study was to gain information about disease prevalence and to identify the responsible genes for inherited retinal dystrophies (IRD) in Japanese populations. Clinical and molecular evaluations were performed on 349 patients with IRD. For segregation analyses, 63 of their family members were employed. Bioinformatics data from 1,208 Japanese individuals were used as controls. Molecular diagnosis was obtained by direct sequencing in a stepwise fashion utilizing one or two panels of 15 and 27 genes for retinitis pigmentosa patients. If a specific clinical diagnosis was suspected, direct sequencing of disease-specific genes, that is, ABCA4 for Stargardt disease, was conducted. Limited availability of intrafamily information and decreasing family size hampered identifying inherited patterns. Differential disease profiles with lower prevalence of Stargardt disease from European and North American populations were obtained. We found 205 sequence variants in 159 of 349 probands with an identification rate of 45.6%. This study found 43 novel sequence variants. In silico analysis suggests that 20 of 25 novel missense variants are pathogenic. EYS mutations had the highest prevalence at 23.5%. c.4957_4958insA and c.8868C>A were the two major EYS mutations identified in this cohort. EYS mutations are the most prevalent among Japanese patients with IRD.
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影响因子：
3.7
作者：
Hosono K;Ishigami C;Takahashi M;Park DH;Hirami Y;Nakanishi H;Ueno S;Yokoi T;Hikoya A;Fujita T;Zhao Y;Nishina S;Shin JP;Kim IT;Yamamoto S;Azuma N;Terasaki H;Sato M;Kondo M;Minoshima S;Hotta Y
通讯作者：
Hotta Y
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：
3.7
作者：
Narahara, Maiko;Higasa, Koichiro;Yamada, Ryo
通讯作者：
Yamada, Ryo
影响因子：
56.9
作者：
KAJIWARA, K;BERSON, EL;DRYJA, TP
通讯作者：
DRYJA, TP
影响因子：
9.8
作者：
Kniazeva, M;Chiang, MF;Zhang, K
通讯作者：
Zhang, K