山东大学耳鼻喉眼学报 ›› 2023, Vol. 37 ›› Issue (3): 88-92.doi: 10.6040/j.issn.1673-3770.0.2022.153
• 论著 • 上一篇
尉慧,张明喜,孙岳,谢汝欣,成琼,李林娜,向倩倩,吴岚,陈中山
WEI Hui, ZHANG Mingxi, SUN Yue, XIE Ruxin, CHENG Qiong, LI Linna, XIANG Qianqian, WU Lan, CHEN Zhongshan
摘要: 目的 探讨PNPLA6基因突变致Boucher-Neuhäuser综合征的临床特点和诊疗方法,并揭示基因检测对该遗传病诊断的重要性。 方法 回顾性分析两例直系兄妹因PNPLA6基因突变致患Boucher-Neuhäuser综合征,分析讨论该基因的结构和功能,以及因其突变导致的其他疾病临床特点。 结果 先证者和哥哥自幼身材矮小,眼底呈灰暗色,视网膜萎缩,可见骨细胞样色素沉着,黄斑周围有渗出,血管走行正常。全外显子组测序结果显示,先证者19号染色体上的PNPLA6基因出现了一对复合杂合突变。第一个突变位点是chr19:7621349, c.2990C>T(p.Ser997Leu,Exon 28),第二个突变位点是chr19:7623819, c.3367G>A(p.Gly1123Arg,Exon 31),哥哥在这两个位点上也均是杂合突变,其父母在这两个位点上均携带致病基因。 结论 根据病史、临床表现和基因检测结果,两兄妹被诊断为Boucher-Neuhäuser综合征。
中图分类号:
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