Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation
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.
Authors
- Hongqing Zhang (ORCID: https://orcid.org/0000-0002-9125-7914)
- Yizhi Zhang
- Xuejiao Ba
- Yuan Qian (ORCID: https://orcid.org/0000-0003-4662-994X)
- Yang Xun (ORCID: https://orcid.org/0000-0002-4244-9805)
- Fangfang Guo (ORCID: https://orcid.org/0000-0003-4818-020X)
- Li Zhu (ORCID: https://orcid.org/0000-0001-5249-6536)
- Yanbin Yang
- Rui Tong
Institutions
- Yunnan Maternal and Child Health (CN)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2024-11-29
- DOI
- https://doi.org/10.3389/fped.2024.1455609
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.55