Frontiers in genetics · 2026
Prenatal genotype-phenotype correlations in four fetuses with Rubinstein-Taybi syndrome due to EP300 mutations: a case series and literature review.
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Ge Tingting, Qi Jun, Deng Xiyuan, Song Xiaoyu, Hui Ling, Cao Yongwen, Wang Yupei, Zhang Chuan, Lin Xiaojuan
Аннотация
OBJECTIVE: This study aims to delineate the prenatal ultrasound characteristics of four cases of Rubinstein-Taybi syndrome type 2 (RSTS2) and explore potential associations with this condition as detected through prenatal ultrasound.
METHODS: Whole exome sequencing (WES) and Sanger sequencing were conducted on four fetuses diagnosed with RSTS2. Prenatal ultrasound data were systematically collected and analyzed.
RESULTS: All four fetuses were found to have previously unreported EP300 variants, which were absent from ClinVar and the Human Gene Mutation Database (HGMD). The prenatal ultrasound findings were diverse; in the second trimester, two fetuses exhibited growth parameters below minus two standard deviations (M-2SD). One fetus showed an abnormal foot posture and thickened plantar skin, another was found to have exencephaly in the first trimester, and one case presented with fetal rhabdomyoma.
CONCLUSION: This study prenatal ultrasound phenotypes associated with EP300 variants may add to the phenotypic profile of RSTS2 and could serve as a reference for prenatal diagnosis and counseling.
METHODS: Whole exome sequencing (WES) and Sanger sequencing were conducted on four fetuses diagnosed with RSTS2. Prenatal ultrasound data were systematically collected and analyzed.
RESULTS: All four fetuses were found to have previously unreported EP300 variants, which were absent from ClinVar and the Human Gene Mutation Database (HGMD). The prenatal ultrasound findings were diverse; in the second trimester, two fetuses exhibited growth parameters below minus two standard deviations (M-2SD). One fetus showed an abnormal foot posture and thickened plantar skin, another was found to have exencephaly in the first trimester, and one case presented with fetal rhabdomyoma.
CONCLUSION: This study prenatal ultrasound phenotypes associated with EP300 variants may add to the phenotypic profile of RSTS2 and could serve as a reference for prenatal diagnosis and counseling.