Xiong Shiyi, Wu Fengyu, Chen Guangquan, Wang Jian, Yang Yingjun, Xing Ya, Sun Luming
Fetal Medicine Unit & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai 201204, China.
Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
Matern Fetal Med. 2022 Aug 9;4(4):286-289. doi: 10.1097/FM9.0000000000000109. eCollection 2022 Oct.
Tuberous sclerosis complex (TSC) is an autosomal-dominant genetic disorder characterized by the development of hamartomas in the brain, heart, skin, kidney, lung, retina, and so on. One fetus from family 1 had a cardiac rhabdomyoma from 21 weeks and 6 days of gestational age, and developed multiple rhabdomyomas and tubers in the brain at 23 weeks and 5 days. The counter monozygotic twin fetus remained negative throughout the pregnancy according to imaging examination. A nonsense mutation in (c.4762C>T, p.Gln1588*) was identified in both twins, but not in the mother. Family 2 was one pair of twin fetuses caused by a microdeletion of exon 30 within inherited from their apparently asymptomatic mother with mosaic status. The larger fetus was identified as having the first cardiac rhabdomyoma from 17 weeks and 4 days of gestational age. The smaller fetus developed multiple rhabdomyomas until 25 weeks and 6 days of gestational age. Both families terminated the pregnancy. Here, we provide intrauterine examples of clinical variability among monozygotic twins suffering from TSC.
结节性硬化症（TSC）是一种常染色体显性遗传病，其特征是在脑、心脏、皮肤、肾脏、肺、视网膜等部位出现错构瘤。家系1中的一名胎儿在孕21周6天时出现心脏横纹肌瘤，并在孕23周5天时在脑内出现多个横纹肌瘤和结节。根据影像学检查，其同卵双胞胎胎儿在整个孕期均未出现异常。在这对双胞胎中均检测到 （c.4762C>T，p.Gln1588*） 的无义突变，但其母亲未检测到。家系2是一对双胞胎胎儿，由从其表现正常但为嵌合状态的母亲遗传而来的 外显子30微缺失所致。较大的胎儿在孕17周4天时被确诊为患有首个心脏横纹肌瘤。较小的胎儿在孕25周6天时出现多个横纹肌瘤。两个家系均终止了妊娠。在此，我们提供了患结节性硬化症的同卵双胞胎临床变异性的宫内实例。
