山东大学学报 (医学版) ›› 2024, Vol. 62 ›› Issue (4): 85-91.doi: 10.6040/j.issn.1671-7554.0.2024.0059
• 临床医学 • 上一篇
彭海英1,2,3,刘爱玲1,2,3,季相妹1,2,3,王言言1,2,3,何印龙1,2,3,高春海1,2,3,马育华1,2,3,李琳1,2,3
PENG Haiying1,2,3, LIU Ailing1,2,3, JI Xiangmei1,2,3, WANG Yanyan1,2,3, HE Yinlong1,2,3, GAO Chunhai1,2,3, MA Yuhua1,2,3, LI lin1,2,3
摘要: 目的 探讨2个3-M(Miller-Mukusick-Malvaux)综合征家系的临床特征和遗传学病因。 方法 选取2022年9月和2023年6月就诊于临沂市人民医院的2个3-M综合征家系为研究对象,应用全外显子测序(whole exome sequencing, WES)对先证者进行基因检测,对候选变异进行Sanger测序和致病性评估,并对2个家系中高危胎儿进行产前诊断。 结果 家系1先证者孕18周,身材矮小、有异常面容,出生时有先天性髋关节脱位现象;WES检出CUL7基因的复合杂合变异:c.4333C>T(p.R1445*)、c.3291_3294del(p.H1098Cfs*42),分别遗传自父亲和母亲,先证者弟弟携带相同的变异,依据美国医学遗传学和基因组学学会相关指南,2个变异位点均评级为致病性变异;先证者胎儿为c.4333C>T变异位点携带者。家系2先证者表现为身材矮小、特殊面容、脊柱侧弯、翼状肩胛骨、双侧斜指、第五指短等,检测到CUL7基因携带遗传自母亲的c.3823del(p.R1275Vfs*34)和遗传自父亲的c.758del(p.L253Rfs*2)复合杂合变异,经评判,上述变异位点分别为致病性变异和疑似致病性变异;胎儿为c.758del变异位点携带者。 结论 本研究在2个家系中确诊了3例3-M综合征患者,CUL7基因:c.4333C>T、c.3291_3294del和c.3823del、c.758del分别是家系1和家系2的遗传学病因,进一步扩展了CUL7基因变异谱,为遗传咨询和产前诊断提供了依据。
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