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Rapid Communication | Open Access

A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops

Wei Houa,b,c,1Guifang Huangd,1Hongyu WeieWenwei Lib,cHoufeng HuangfYuling Qiub,cHengying Zhub,cHuifeng HangPing Chenb,c( )Xue Zhanga,h( )
Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and Application Co-constructed by the Province and Ministry, Guangxi Medical University, Nanning, Guangxi 530021, China
NHC Key Laboratory of Thalassemia Medicine, Nanning, Guangxi 530021, China
Guangxi Key Laboratory of Thalassemia Research, Life Sciences Institute, Guangxi Medical University, Nanning, Guangxi 530021, China
Department of Eugenic Genetics, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China
Department of Organic Chemistry and Medicinal Chemistry, Pharmaceutical College, Guangxi Medical University, Nanning, Guangxi 530021, China
Department of Ultrasound Imaging, Baise Maternal and Child Health Hospital, Baise, Guangxi 533000, China
Department of Bioinformatics, Berry Genomics Co., Ltd., Beijing 102206, China
McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing 100730, China

Peer review under responsibility of Chongqing Medical University.

1 These authors contributed equally to this work.

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References

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Quinn AM, Valcarcel BN, Makhamreh MM, Al-Kouatly HB, Berger SI. A systematic review of monogenic etiologies of nonimmune hydrops fetalis. Genet Med. 2021;23(1):3–12.

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Løseth S, Voermans NC, Torbergsen T, et al. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013;260(6):1504–1510.

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Zecevic N, Arsenijevic V, Manolakos E, et al. New compound heterozygous splice site mutations of the skeletal muscle ryanodine receptor (RYR1) gene manifest fetal akinesia: a linkage with congenital myopathies. Mol Syndromol. 2020;11(2):104–109.

4

Meier N, Bruder E, Filges I. A novel homozygous splice-site mutation in RYR1 causes fetal hydrops and affects skeletal and smooth muscle development. Prenat Diagn. 2017;37(7):720–724.

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Zhao Q, Li X, Liu L, et al. Prenatal diagnosis identifies compound heterozygous variants in RYR1 that causes ultrasound abnormalities in a fetus. BMC Med Genom. 2022;15(1):202.

Genes & Diseases
Article number: 101375
Cite this article:
Hou W, Huang G, Wei H, et al. A novel homozygous intronic variant affecting splicing in the RYR1 gene contributes to fetal hydrops. Genes & Diseases, 2024, 11(6): 101375. https://doi.org/10.1016/j.gendis.2024.101375

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Received: 11 April 2024
Published: 14 July 2024
© 2024 The Authors.

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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