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A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1

Pediatric Research volume 95, pages 1246–1253 (2024)Cite this article

Abstract

The mechanism underlying anorectal malformations (ARMs)-related VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo–esophageal fistula, and renal and limb abnormalities) remains unclear. Copy number variation (CNV) contributed to VACTERL pathogenicity. Here, we report a novel CNV in 8p23 and 12q23.1 identified in a case of ARMs-related VACTERL association. This 12-year-old girl presented a cloaca (urethra, vagina, and rectum opening together and sharing a single tube length), an isolated kidney, and a perpetuation of the left superior vena cava at birth. Her intelligence, growth, and development were slightly lower than those of normal children of the same age. Array comparative genomic hybridization revealed a 9.6-Mb deletion in 8p23.1–23.3 and a 0.52-Mb duplication in 12q23.1 in her genome. Furthermore, we reviewed the cases involving CNVs in patients with VACTERL, 8p23 deletion, and 12q23.1 duplication, and our case was the first displaying ARMs-related VACTERL association with CNV in 8p23 and 12q23.1. These findings enriched our understanding between VACTERL association and the mutations of 8p23 deletion and 12q23.1 duplication.

Impact

  • This is a novel case of a Chinese girl with anorectal malformations (ARMs)-related VACTERL with an 8p23.1–23.3 deletion and 12q23.1 duplication. Cloaca malformation is presented with novel copy number variation in 8p23.1–23.3 deletion and 12q23.1 duplication.

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Fig. 1: Images showing retrograde cloacal angiography.
Fig. 2: Image of abdomen CT showing right single kidney of the patient.
Fig. 3: UCSC Genome Browser view of genomic regions identified in this study.

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Funding

This work was supported by the National Key Research and Development Program (2021YFC2701003,2021YFC2701104) and the National Natural Science Foundation of China (Grant no. 82171649) by Zhengwei Yuan, the National Natural Science Foundation of China (Grant no. 82070531) by H.J., and the Basic Research project of the Education Department of Liaoning Province (grant number LJKMZ20221195) by Z.Y.

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  1. Department of Pediatric Surgery, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China

    Yue Li, Peiqi Liu, Weilin Wang, Huimin Jia, Yuzuo Bai & Zhonghua Yang

  2. Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital of China Medical University, Shenyang, Liaoning, China

    Zhengwei Yuan & Zhonghua Yang

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  1. Yue Li
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Y.L. wrote the manuscript. Y.L. and P.L. reviewed the manuscript. W.W., H.J., and Z.Y. revised and completed the manuscript. Z.Y. wrote and revised the manuscript.

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Correspondence to Yuzuo Bai, Zhengwei Yuan or Zhonghua Yang.

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The protocol for this study was approved by the Animal Ethics Committee of Shengjing Hospital of China Medical University (No. 2021PS183K).

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Li, Y., Liu, P., Wang, W. et al. A novel genotype-phenotype between persistent-cloaca-related VACTERL and mutations of 8p23 and 12q23.1. Pediatr Res 95, 1246–1253 (2024). https://doi.org/10.1038/s41390-023-02928-0

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