Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex
10.1097/FM9.0000000000000109
- VernacularTitle:Prenatal Phenotypical Discrepancy in Monozygotic Twins with Tuberous Sclerosis Complex
- Author:
Shiyi XIONG
1
;
Fengyu WU
;
Guangquan CHEN
;
Jian WANG
;
Yingjun YANG
;
Ya XING
;
Luming SUN
Author Information
1. Fetal Medicine Unit & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai 201204, China
- Publication Type:Journal Article
- Keywords:
Twins;
Monozygotic;
Rhabdomyoma;
Tuberous sclerosis complex
- From:
Maternal-Fetal Medicine
2022;04(4):286-289
- CountryChina
- Language:English
-
Abstract:
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 TSC2 (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 TSC2 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.
