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Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly

Journal of Human Genetics volume 65, pages 455–459 (2020)Cite this article

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Abstract

Ventriculomegaly with cystic kidney disease (VMCKD) is a rare and severe disorder characterized by cerebral ventriculomegaly, greatly elevated maternal serum alpha-fetoprotein (MSAFP) or amniotic fluid alpha-fetoprotein (AFAFP) levels and kidney disease similar to Finnish congenital nephrosis. Recessive mutations in the CRB2 (NM_173689) gene have been shown to cause the syndrome. Here, we described a nonconsanguineous Chinese family with two fetuses affected with VMCKD. A novel compound heterozygous mutation was identified in the CRB2 gene with co-segregation. One mutation [c.1960G>C (p.A654P)] was inherited from the father, while another mutation [c.3078_c.3093delGGCGCGGCCCCGGCCC (p.L1026Lfs*110)] was inherited from the mother. Preimplantation genetic testing for monogenic disease (PGT-M) was performed for the carrier couple with full informed consent and successfully blocked the inheritance of the disease. Our study has important implications on molecular diagnosis and genetic counseling for VMCKD and extends the mutation spectrum in CRB2 gene.

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Acknowledgements

We would like to thank the patients for participating in this study. We would like to thank Dr Xue Huiqin and Dr Xue Jinjie for their guidance. This study is supported by the Center of Reproductive Medicine of Children’s Hospital of Shanxi and Women Health Center of Shanxi.

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Authors and Affiliations

  1. Center of Reproductive Medicine, Children’s Hospital of Shanxi and Women Health Center of Shanxi, Taiyuan, Shanxi, 030013, PR China

    Lei Zhang, Zhiping Zhang, Xingyu Bi, Pengfei Zhu, Suming Xu, Yaoqin Wang, Xiaoyu Zhan, Junmei Fan, Yuan Yuan, Huixia Bi & Xueqing Wu

  2. Frasergen Bioinformatics Co., Ltd, Wuhan, 430072, PR China

    Yong Mao & Yanbing Cheng

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  1. Lei Zhang
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Correspondence to Xueqing Wu.

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The authors declare that they have no conflict of interest.

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We obtained fully informed written consent from adult subject in this study and publication of clinical data. This study was approved by the Ethics Committee of Children’s Hospital of Shanxi and Women Health Center of Shanxi (research license: IRB-KY-2019–002).

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Zhang, L., Zhang, Z., Bi, X. et al. Genetic and preimplantation diagnosis of cystic kidney disease with ventriculomegaly. J Hum Genet 65, 455–459 (2020). https://doi.org/10.1038/s10038-020-0731-0

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  • DOI: https://doi.org/10.1038/s10038-020-0731-0

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