PDF(Pubmed)
Abstract：
BACKGROUND: Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision. However, a genetic cause cannot be determined in approximately 60% of cases.
METHODS: Two non-consanguineous Yi minority ethnic group families who have a 6.4-year-old boy and a 0.5-year-old boy, respectively, were recruited for genetic diagnosis. Here, we used whole-exome sequencing to detect mutations in the genes of the probands of the retinitis pigmentosa families, and Sanger sequencing to confirm the causal mutations identified by whole exome sequencing. In addition, we report two cases with retinitis pigmentosa caused by RDH12 (c.524C > T) and PRPF4 (c.1273G > A) pathogenic mutations.
CONCLUSIONS: These results might extend the mutation spectrum of known retinitis pigmentosa genes and give these two Yi minority ethnic group families from Yunnan more precise genetic counseling and more specific prognoses.
METHODS: Two non-consanguineous Yi minority ethnic group families who have a 6.4-year-old boy and a 0.5-year-old boy, respectively, were recruited for genetic diagnosis. Here, we used whole-exome sequencing to detect mutations in the genes of the probands of the retinitis pigmentosa families, and Sanger sequencing to confirm the causal mutations identified by whole exome sequencing. In addition, we report two cases with retinitis pigmentosa caused by RDH12 (c.524C > T) and PRPF4 (c.1273G > A) pathogenic mutations.
CONCLUSIONS: These results might extend the mutation spectrum of known retinitis pigmentosa genes and give these two Yi minority ethnic group families from Yunnan more precise genetic counseling and more specific prognoses.
摘要：
背景：色素性视网膜炎是一组罕见的遗传性视网膜营养不良疾病，导致夜间视力困难，周边视野逐渐丧失（隧道视野），最终失去中心视力。然而,大约60%的病例无法确定遗传原因。
方法：两个非近亲彝族家庭，有一个6.4岁男孩和一个0.5岁男孩，分别,被招募用于基因诊断。这里,我们使用全外显子组测序来检测色素性视网膜炎家族先证者基因的突变，和Sanger测序以确认通过全外显子组测序鉴定的因果突变。此外,我们报告了两例由RDH12（c.524C>T）和PRPF4（c.1273G>A）致病突变引起的色素性视网膜炎。
结论：这些结果可能会扩展已知视网膜色素变性基因的突变谱，并为这两个云南彝族家庭提供更精确的遗传咨询和更具体的预后。
方法：两个非近亲彝族家庭，有一个6.4岁男孩和一个0.5岁男孩，分别,被招募用于基因诊断。这里,我们使用全外显子组测序来检测色素性视网膜炎家族先证者基因的突变，和Sanger测序以确认通过全外显子组测序鉴定的因果突变。此外,我们报告了两例由RDH12（c.524C>T）和PRPF4（c.1273G>A）致病突变引起的色素性视网膜炎。
结论：这些结果可能会扩展已知视网膜色素变性基因的突变谱，并为这两个云南彝族家庭提供更精确的遗传咨询和更具体的预后。
