Henderson Robert H, Li Zheng, Abd El Aziz Mai M, Mackay Donna S, Eljinini Mohammad A, Zeidan Marwan, Moore Anthony T, Bhattacharya Shomi S, Webster Andrew R
Moorfields Eye Hospital, London, UK.
Mol Vis. 2010 Jan 15;16:46-52.
To describe the clinical findings and mutations in affected members of two families with an autosomal recessive retinal dystrophy associated with mutations in the protocadherin-21 (PCDH21) gene.
A full genome scan of members of two consanguineous families segregating an autosomal recessive retinal dystrophy was performed and regions identical by descent identified. Positional candidate genes were identified and sequenced. All patients had a detailed ophthalmic examination, including electroretinography and retinal imaging.
Affected members of both families showed identical homozygosity for an overlapping region of chromosome 10q. Sequencing of a candidate gene, PCDH21, showed two separate homozygous single-base deletions, c.337delG (p.G113AfsX1) and c.1459delG (p.G487GfsX20), which were not detected in 282 control chromosomes. Affected members of the two families first reported nyctalopia in late teenage years and retained good central vision until their late 30s. No color vision was detected in any proband. The fundus appearance included the later development of characteristic circular patches of pigment epithelial atrophy at the macula and in the peripheral retina.
Biallelic mutations in the photoreceptor-specific gene PCDH21 cause recessive retinal degeneration in humans.
描述两个患有常染色体隐性视网膜营养不良的家族中受累成员的临床发现及突变情况，该疾病与原钙黏蛋白-21（PCDH21）基因的突变相关。
对两个近亲家族中患有常染色体隐性视网膜营养不良的成员进行全基因组扫描，确定同源区域。鉴定并测序定位候选基因。所有患者均接受了详细的眼科检查，包括视网膜电图和视网膜成像。
两个家族的受累成员在10号染色体q区域的重叠区域显示出相同的纯合性。对候选基因PCDH21进行测序，发现两个不同的纯合单碱基缺失，即c.337delG（p.G113AfsX1）和c.1459delG（p.G487GfsX20），在282条对照染色体中未检测到。两个家族的受累成员在青少年晚期首次出现夜盲症，并在30多岁时仍保持良好的中心视力。所有先证者均未检测到色觉异常。眼底表现包括黄斑和周边视网膜后期出现特征性的圆形色素上皮萎缩斑。
光感受器特异性基因PCDH21的双等位基因突变导致人类隐性视网膜变性。
