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IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations

Journal of Human Genetics volume 65, pages 627–631 (2020)Cite this article

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Abstract

Herein, we present a Chinese infant with an early-onset intellectual developmental disorder with cardiac arrhythmia syndrome. A 6-month-old boy visited our hospital because of convulsions and paroxysmal cyanosis for 1 day. Mental development analysis showed that the patient had a neurodevelopmental delay. Frequent seizures occurred, and ECG monitoring demonstrated severe cardiac arrhythmia. Whole-exome sequencing showed that the infant had two compound heterozygous variants, NM_016194:c.458G>A/p.Cys153Tyr and NM_016194:c.1032C>A/p.Tyr344*, in GNB5. The first variant was inherited from his mother, while the other one was a de novo variant. Haplotype analysis indicated that the de novo variant was located in the paternal chromosome. Structural modeling indicated that both mutations could influence the interaction of GNB5 with its binding protein. Our study expanded the known genetic and phenotypic spectrum of GNB5-associated diseases, by presenting a Chinese male infant with IDDCA.

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Acknowledgements

This study is financially supported by Initial Scientific Research Fund for High-Level Talents of Chengde Medical University (No. 201901), Scientific and Technological Research Projects of Hebei Higher Education (No. ZD2019084), and Key Research and Development Plan of Anhui Province (No.1804h08020282).

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Authors and Affiliations

  1. Pediatric Intensive Care Unit, Anhui Provincial Children’s Hospital, Hefei, 230029, PR China

    Mingxing Tang, Yuanyuan Xu, Wenjia Tong & Danqun Jin

  2. Beijing Chigene Translational Medicine Research Center Co., Ltd, Beijing, 100875, PR China

    Yajian Wang

  3. School of Basic Medical Science, Chengde Medical University, Chengde, 067000, PR China

    Xiu-An Yang

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  1. Mingxing Tang
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Correspondence to Danqun Jin or Xiu-An Yang.

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Tang, M., Wang, Y., Xu, Y. et al. IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations. J Hum Genet 65, 627–631 (2020). https://doi.org/10.1038/s10038-020-0742-x

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