PDF(Pubmed)
Abstract：
A Norrie disease protein gene (NDP) variant, c.174 + 1G > A, was found in a Chinese family through next-generation sequencing and verified with Sanger sequencing. A case of Norrie disease was reported in the first child, and the symptoms were consistent with the results of gene sequencing. The child\'s mother, who was pregnant at the time, was found to be a carrier of the identified pathogenic variant. To determine if the fetus carried the same disease-causing variant, prenatal examination and prenatal diagnosis were conducted. The fetus had biocular vitreous abnormalities and complete retinal abnormalities. Genetic testing showed that the fetus had maternally inherited the NDP gene variant found in the proband. It was concurrently confirmed that the NDP gene variant led to the deletion of 246 bp at the 3\' end of exon 2, resulting in the deletion of the initiation codon and the occurrence of disease. Our study suggests that the diagnosis of rare diseases through next-generation sequencing, combined with prenatal ultrasound and prenatal diagnosis, can help families with known familial genetic diseases. Furthermore, the findings of this study broaden the known genetic spectrum of Norrie disease.
摘要：
诺里病蛋白基因(NDP)变异体,c.174+1G>A，通过下一代测序在一个中国家庭中发现，并通过Sanger测序进行了验证。第一个孩子报告了一例诺里病，症状与基因测序结果一致。孩子的母亲，当时怀孕的人，被发现是已鉴定的致病变体的载体。为了确定胎儿是否携带相同的致病变异，进行产前检查和产前诊断。胎儿有双眼玻璃体异常和完全视网膜异常。遗传测试表明，胎儿在先证者中发现了NDP基因变异。同时证实，NDP基因变异导致外显子23'末端246bp的缺失，导致起始密码子的缺失和疾病的发生。我们的研究表明，通过下一代测序来诊断罕见疾病，结合产前超声和产前诊断，可以帮助患有已知家族性遗传疾病的家庭。此外，这项研究的发现拓宽了诺里病的已知遗传谱。
