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A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient

Journal of Human Genetics volume 67, pages 573–577 (2022)Cite this article

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Abstract

Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of left-right asymmetry during visceral development. However, pathogenic genetic lesions are found in less than 20% of HS patients. In this cohort study, whole-exome sequencing was performed for 110 patients with situs inversus or situs ambiguous. We identified a novel nonsense variant in PKD1L1(c.1387 C > T; p.463Gln*) in a Chinese patient with heterotaxy syndrome and congenital asplenia. This homozygous variant caused the ___domain of PKD1L1 complete absence. To our knowledge, this novel variant is the first phenotype of congenital asplenia found in patients with PKD1L1 variants, and the first PKD1L1 variant found in China. Our findings expand the spectrum of PKD1L1 variants and provide support for PKD1L1 variant and congenital asplenia, and the critical role of PKD1L1 during left-right patterning in the Han Chinese population.

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Acknowledgements

We sincerely appreciate all the participants in this project.

Funding

Funding

This work was supported by the National Natural Science Foundation of China (81970268 and 81470445).

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Authors and Affiliations

  1. Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China

    Heng Gu, Zhuang-Zhuang Yuan, Xiao-Hui Xie, Yi-Feng Yang & Zhi-Ping Tan

  2. Department of Cell Biology, School of Life Sciences, Central South University, Changsha, China

    Zhuang-Zhuang Yuan

  3. Human Key Laboratory of Animal Models for Human Diseases, School of Life Sciences, Central South University, Changsha, China

    Zhuang-Zhuang Yuan

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  1. Heng Gu
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  2. Zhuang-Zhuang Yuan
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Correspondence to Zhi-Ping Tan.

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Gu, H., Yuan, ZZ., Xie, XH. et al. A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient. J Hum Genet 67, 573–577 (2022). https://doi.org/10.1038/s10038-022-01053-w

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