Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
复制标题
两名患有与 PDE6B 基因突变相关的常染色体隐性遗传色素性视网膜炎的日本兄弟姐妹的携带者父母的视杆细胞视网膜电图减少。
DOI：
10.1007/s10633-015-9497-7
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发表时间：
2015
期刊：
影响因子：
--
通讯作者：
Iwata T.
中科院分区：
文献类型：
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作者：
Kuniyoshi K;Sakuramoto H;Yoshitake K;Ikeo K;Furuno M;Tsunoda K;Kusaka S;Shimomura Y;Iwata T.
PurposeTo目前的临床和遗传学研究结果在两个兄弟姐妹与常染色体隐性视网膜色素变性（RP）和他们的非症状parents.MethodsWe研究了两个兄弟姐妹，一个48岁的女人和她的44岁的弟弟，和他们的父母。他们进行了一般眼科检查，包括检眼镜检查、视野检查和视网膜电图（ERG）。他们的整个外显子进行了分析，通过下一代序列technique.ResultsThe两个兄弟姐妹夜盲了很长一段时间，临床检查发现弥漫性视网膜变性与骨针色素沉着，视野收缩，和不可记录的ERG。他们的父母没有症状，眼底正常;但是，他们的杆ERG降低。遗传学检查发现兄弟姐妹中存在PDE 6 B基因I535 N和H557 Y复合杂合突变，父母均为该突变的杂合携带者。无症状的常染色体隐性遗传性视网膜色素变性携带者的视网膜功能应谨慎评估。
PurposeTo present the clinical and genetic findings in two siblings with autosomal recessive retinitis pigmentosa (RP) and their non-symptomatic parents.MethodsWe studied two siblings, a 48-year-old woman and her 44-year-old brother, and their parents. They had general ophthalmic examinations including ophthalmoscopy, perimetry, and electroretinography (ERG). Their whole exomes were analyzed by the next-generation sequence technique.ResultsThe two siblings had night blindness for a long time, and clinical examinations revealed diffuse retinal degeneration with bone spicule pigmentation, constriction of the visual field, and non-recordable ERGs. Their parents were non-symptomatic and had normal fundi; however, their rod ERGs were reduced. Genetic examination revealed compound heterozygous mutations of I535N and H557Y in thePDE6Bgene in the siblings, and the parents were heterozygous carriers of the mutations.ConclusionsHeterozygous mutation in thePDE6Bgene can cause a reduction in the rod function to different degrees. The retinal function of non-symptomatic carriers of autosomal recessive RP should be evaluated with care.