意大利家族中与XLRS1基因新突变相关的X连锁青少年视网膜劈裂症的临床特征
Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.
作者信息
Simonelli F, Cennamo G, Ziviello C, Testa F, de Crecchio G, Nesti A, Manitto M P, Ciccodicola A, Banfi S, Brancato R, Rinaldi E
机构信息
Department of Ophthalmology, Seconda Università di Napoli, Naples, Italy. Telethon Institute of Genetics and Medicine (TIGEM), Italy.
出版信息
Br J Ophthalmol. 2003 Sep;87(9):1130-4. doi: 10.1136/bjo.87.9.1130.
AIMS
To describe the clinical phenotype of X linked juvenile retinoschisis in eight Italian families with six different mutations in the XLRS1 gene.
METHODS
Complete ophthalmic examinations, electroretinography and A and B-scan standardised echography were performed in 18 affected males. The coding sequences of the XLRS1 gene were amplified by polymerase chain reaction and directly sequenced on an automated sequencer.
RESULTS
Six different XLRS1 mutations were identified; two of these mutations Ile81Asn and the Trp122Cys, have not been previously described. The affected males showed an electronegative response to the standard white scotopic stimulus and a prolonged implicit time of the 30 Hz flicker. In the families with Trp112Cys and Trp122Cys mutations we observed a more severe retinoschisis (RS) clinical picture compared with the other genotypes.
CONCLUSION
The severe RS phenotypes associated with Trp112Cys and to Trp122Cys mutations suggest that these mutations determine a notable alteration in the function of the retinoschisin protein.
目的
描述8个意大利家庭中X连锁青少年视网膜劈裂症的临床表型，这些家庭的XLRS1基因存在6种不同突变。
方法
对18名患病男性进行了全面的眼科检查、视网膜电图检查以及A和B超标准化超声检查。通过聚合酶链反应扩增XLRS1基因的编码序列，并在自动测序仪上直接测序。
结果
鉴定出6种不同的XLRS1突变；其中两种突变Ile81Asn和Trp122Cys，此前未被描述过。患病男性对标准白色暗视刺激表现出负性电反应，且30Hz闪烁的隐含时间延长。在携带Trp112Cys和Trp122Cys突变的家庭中，与其他基因型相比，我们观察到了更严重的视网膜劈裂（RS）临床表现。
结论
与Trp112Cys和Trp122Cys突变相关的严重RS表型表明，这些突变导致视网膜劈裂蛋白功能发生显著改变。
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