Evidence map›Paper›PMID 41286677›Full record

ArticleBMC pregnancy and childbirth2025

Whole exome sequencing in fetal cardiac rhabdomyoma detected by ultrasonography: an analysis of 12 cases.

Jing Liu, Jun He, Wanglan Tang, Jing Chen, Yingchun Luo, Haoxian Li, Zhuo Li, Lingqian Wu

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Article in BMC pregnancy and childbirth, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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8 authors.

Jing Liu *Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, Hunan, 410007, China.
Jun He *Hunan Provincial Key Laboratory of Regional Hereditary Birth Defects Prevention and Control, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, Changsha, Hunan, 410007, China.
Wanglan TangDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, 410008, China.
Jing ChenDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, 410008, China.
Yingchun LuoDepartment of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan, 410008, China.
Haoxian LiJiangmen Maternity and Child Health Care Hospital, Jiangmen, Guangdong, 529000, China.
Zhuo LiCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. lizhuo@sklmg.edu.cn.
Lingqian WuCenter for Medical Genetics, Hunan Key Laboratory of Medical Genetics, MOE Key Lab of Rare Pediatric Diseases, School of Life Sciences, Central South University, Changsha, 410000, China. wulingqian@sklmg.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMost of fetal cardiac rhabdomyomas (CRs) are associated with tuberous sclerosis (TSC), an autosomal dominant inherited disorder caused by mutations in the TSC1 or TSC2 genes.

methodsIn this study, 12 fetuses with sonographically identified CR were included. A comprehensive analysis integrating prenatal echocardiographic findings, parental phenotypic characteristics, and genetic profiles of fetuses with CR were conducted. Karyotype and SNP-array/CNV-seq were performed simultaneously with Trio-WES.

resultsAll CRs were observed in the ventricle, interventricular septum, and the atrium, while the left ventricle were the most common areas. All subjects did not detect arrhythmia during pregnancy. Beside CRs, irregular low echo in the brain was detected in Case 12. TSC1 and TSC2 variants were identified in all 12 fetuses (100%). Mutants of TSC1 account for 25% (3/12) and TSC2 account for 75%(9/12). Two-thirds of these variants were de novo. The P/LP variant spectrums in TSC1/TSC2 includes 4 (34%) nonsense, 4 (33%) missense, 2 (17%) frameshift, 1 (8%) splice and 1 (8%) small deletion. A 780 kb deletion in 9q34.13 (arr[hg19] 9q34.13 (132286422-133062068) × 1) encompassing the entire of TSC1 gene, and the other two de novo mutants of c.1687G > C and c.1106delT in TSC2 gene had not been reported previously.

conclusionCombination of fetal CR detected by ultrasound and genetic testing can effectively diagnose the prenatal cases of TSC. Three novel variants in TSC genes enlarge the variants spectrum of TSC.

Indexed as

Exome SequencingHeart NeoplasmsRhabdomyomaTuberous SclerosisAdultFemaleHumansMutationPregnancyTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinUltrasonography, PrenatalTSC1 protein, humanTSC2 protein, humanTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinCardiac rhabdomyomaPrenatal diagnosisTrio-WESTSC1TSC2

Identifiers

PMID41286677
PMCPMC12645690

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