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CASE REPORT article

Front. Pediatr.
Sec. Pediatric Cardiology
Volume 12 - 2024 | doi: 10.3389/fped.2024.1455609
This article is part of the Research Topic Pulmonary Hypertension in Atrial Septal Defect View all 4 articles

Case Report of Kabuki Syndrome in a Newborn Caused by KMT2D Gene Mutation

Provisionally accepted
Xuejiao Ba Xuejiao Ba Xiyao Yang Xiyao Yang *Fang Guo Fang Guo *Lihong Zhu Lihong Zhu *Rui Tong Rui Tong *Yanbin Yang Yanbin Yang *Yuan Qian Yuan Qian *Hongqing Zhang Hongqing Zhang *
  • Kunming Maternal and Child Health Hospital, Kunming, China

The final, formatted version of the article will be published soon.

    Background: Kabuki syndrome is a genetic syndrome that affects multiple organs and systems. Gene mutations are the main cause of KS. Mutations in the KMT2D and KDM6A genes have been reported as two relatively clear pathogenic pathways. This article reports a case of KS with congenital heart disease, hearing abnormalities, and hypoglycemia caused by a KMT2D gene mutation confirmed by clinical exome sequencing, enriching the clinical phenotype and gene mutation spectrum of KS and helping to improve understanding of the disease.Case presentation: Through clinical exome sequencing, we performed genetic diagnosis on a newborn with congenital heart malformation and identified a heterozygous mutation in the KMT2D gene (NM_003482.3:c.4195C>T, p.Gln1399*), which has not been reported as a pathogenic mutation before. This variant was not detected in the peripheral blood of the patient's parents, suggesting it is a de novo mutation.Discussion: KS has strong clinical characteristics and biological heterogeneity. Genetic diagnosis can help identify the types of mutated genes. Our results provide some clues for KS caused by KMT2D gene mutations associated with congenital heart disease, hearing abnormalities, and hypoglycemia. However, the relationship between genotype and phenotype is not yet fully understood. The molecular pathogenesis of KS still needs further exploration and clarification.

    Keywords: Kabuki syndrome, congenital heart disease, KMT2D gene, de novo mutation, hyperinsulinemic hypoglycemia

    Received: 27 Jun 2024; Accepted: 04 Nov 2024.

    Copyright: © 2024 Ba, Yang, Guo, Zhu, Tong, Yang, Qian and Zhang. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Xiyao Yang, Kunming Maternal and Child Health Hospital, Kunming, China
    Fang Guo, Kunming Maternal and Child Health Hospital, Kunming, China
    Lihong Zhu, Kunming Maternal and Child Health Hospital, Kunming, China
    Rui Tong, Kunming Maternal and Child Health Hospital, Kunming, China
    Yanbin Yang, Kunming Maternal and Child Health Hospital, Kunming, China
    Yuan Qian, Kunming Maternal and Child Health Hospital, Kunming, China
    Hongqing Zhang, Kunming Maternal and Child Health Hospital, Kunming, China

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