Abstract：
Purpose: To explore the genetic defects in two Chinese families with X-linked Norrie disease (ND). Methods: We analyzed two Chinese families with ND at molecular level through clinical exome sequencing and the variations were identified by Sanger sequencing. Results: Two genetic variations were found in the NDP gene by clinical exome sequencing, a partial deletion of 801 bp contained the whole exon 2 and a missense variant (164G>A) within codon 55 that resulted in the interchange of cysteine by phenylalanine. Clinical findings were more severe in the patients who presented the missense variant. Conclusion: We report two genetic variations in the NDP gene in Chinese that extend the mutational and phenotypic spectra of NDP gene, and also demonstrate the feasibility of clinical exome sequencing in application of molecular diagnosis.
摘要：
目的：探讨中国两个X连锁诺里病（ND）家系的遗传缺陷。方法：我们通过临床外显子组测序在分子水平上分析了两个中国ND家族，并通过Sanger测序鉴定了变异。结果:临床外显子组测序发现NDP基因存在两种遗传变异,801bp的部分缺失包含整个外显子2和密码子55内的错义变体(164G>A),导致半胱氨酸被苯丙氨酸互换。出现错义变异的患者的临床发现更为严重。结论：我们报道了中国人NDP基因的两个遗传变异，扩展了NDP基因的突变谱和表型谱，同时也证明了临床外显子组测序在分子诊断中应用的可行性。
