Prenatal diagnosis of a fetus with Rubinstein-Taybi syndrome
10.3760/cma.j.cn511374-20231016-00195
- VernacularTitle:产前诊断Rubinstein-Taybi综合征胎儿1例
- Author:
Jia PENG
1
;
Bo YANG
;
Handuo WANG
;
Zhiying ZHANG
;
Fangying CUI
;
Haiyu LI
;
Yueshu ZHAO
;
Ling LIU
Author Information
1. 郑州大学第三附属医院医学遗传与产前诊断科，郑州 450052
- Keywords:
Rubinstein-Taybi syndrome;
CREBBP gene;
Whole exome sequencing;
Nonsense variant
- From:
Chinese Journal of Medical Genetics
2024;41(8):973-976
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical characteristics and variant of CREBBP gene in a fetus with Rubinstein-Taybi syndrome (RSTS). Methods:A fetus with RSTS diagnosed at the Third Affiliated Hospital of Zhengzhou University in August 2022 was selected as the study subject. Clinical data, amniotic fluid sample of the fetus and peripheral blood samples of its parents were collected for whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.Results:Foot malformation, cerebellar vermis agenesis, brain agenesis, polysyndactyly of the big toes and other phenotypes were found by prenatal ultrasound. WES revealed that the fetus has harbored a heterozygous c. 4684G>T (p.E1562*) variant in exon 28 of the CREBBP gene (NM_004380.3), which was de novo in origin. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the variant was predicted to be pathogenic (PVS1+ PS2_Moderate+ PM2_Supporting). After genetic counseling, the couple had opted to terminate the pregnancy and refused autopsy for the fetus. Conclusion:The c. 4684G>T (p.E1562*) variant of the CREBBP gene probably underlay the RSTS in this fetus. The newly discovered variant has enriched the mutational spectrum of the CREBBP gene and illustrated that WES is an efficient tool for the prenatal diagnosis of RSTS.
