A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
复制标题
DOI：
--
复制
发表时间：
2000
影响因子：
4.4
通讯作者：
Y. Wada;M. Nakazawa;T. Abe;M. Tamai
中科院分区：
文献类型：
--
作者：
Y. Wada;M. Nakazawa;T. Abe;M. Tamai
目的：研究与RP2基因密码子253 （Leu253Arg）突变相关的x连锁视网膜色素变性日本家族的临床表现。方法病例报告包括临床特征和结果荧光素血管造影、视网膜电图、动态视野测试和DNA分析。检测了两例与RP2基因密码子253 （Leu253Arg）翻转突变相关的视网膜色素变性半合子和专性携带者。结果在一个日本家庭中发现了一种新的RP2基因Leu253Arg突变，该突变与视网膜变性共分离，发生在两名受影响的男性和两名女性杂合子携带者中。半合子的眼科表现为严重的视网膜变性。专性携带者双眼均见轻度视网膜变性，眼底无绒毡样反射。结论RP2基因密码子253位点突变是日本家族中首次报道的突变。结论RP2基因突变也是导致日本患者x连锁视网膜色素变性的原因。
PURPOSE To identify the clinical findings in a Japanese family with X-linked retinitis pigmentosa associated with mutation in codon 253 (Leu253Arg) in the RP2 gene. METHODS Case reports included clinical features and results of fluorescein angiography, electroretinogram, kinetic visual field testing, and DNA analysis. Two affected hemizygotes with retinitis pigmentosa associated with transversion mutations in codon 253 (Leu253Arg) of the RP2 gene and the obligate carriers were examined. RESULTS A novel Leu253Arg mutation of the RP2 gene was found to cosegregate with retinal degeneration in two affected males and two carriers in female heterozygote in a Japanese family. The ophthalmic findings in hemizygote showed severe retinal degeneration. In the obligate carrier, mild chorioretinal degeneration was observed in both eyes but a tapetal-like reflex of the fundus was not apparent. CONCLUSIONS The mutation at codon 253 of the RP2 gene is the first mutation reported in a Japanese family. It is concluded that the mutation of the RP2 gene also causes the X-linked retinitis pigmentosa in Japanese patients.