Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation
BackgroundKabuki 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, h...
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Frontiers Media S.A.
2024-11-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/full |
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| author | Xuejiao Ba Xiyao Yang Yizhi Zhang Fang Guo Lihong Zhu Rui Tong Yanbin Yang Yuan Qian Hongqing Zhang |
| author_facet | Xuejiao Ba Xiyao Yang Yizhi Zhang Fang Guo Lihong Zhu Rui Tong Yanbin Yang Yuan Qian Hongqing Zhang |
| author_sort | Xuejiao Ba |
| collection | DOAJ |
| description | BackgroundKabuki 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 presentationThrough 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.DiscussionKS 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. |
| format | Article |
| id | doaj-art-e41868044f784da591857de10bf146e5 |
| institution | DOAJ |
| issn | 2296-2360 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-e41868044f784da591857de10bf146e52025-08-20T02:48:53ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602024-11-011210.3389/fped.2024.14556091455609Case report of kabuki syndrome in a newborn caused by KMT2D gene mutationXuejiao Ba0Xiyao Yang1Yizhi Zhang2Fang Guo3Lihong Zhu4Rui Tong5Yanbin Yang6Yuan Qian7Hongqing Zhang8Obstetrics and Gynecology Clinical Research Center (Yunnan Joint Key Laboratory), Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaObstetrics and Gynecology Clinical Research Center (Yunnan Joint Key Laboratory), Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaObstetrics and Gynecology Clinical Research Center (Yunnan Joint Key Laboratory), Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaDepartment of Neonatology, Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaDepartment of Pediatrics, Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaDepartment of Ultrasound Medicine, Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaObstetrics and Gynecology Clinical Research Center (Yunnan Joint Key Laboratory), Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaObstetrics and Gynecology Clinical Research Center (Yunnan Joint Key Laboratory), Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaObstetrics and Gynecology Clinical Research Center (Yunnan Joint Key Laboratory), Kunming Maternity and Child Care Hospital, Kunming, Yunnan, ChinaBackgroundKabuki 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 presentationThrough 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.DiscussionKS 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.https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/fullkabuki syndromecongenital heart diseaseKMT2D genede novo mutationhyperinsulinemic hypoglycemia |
| spellingShingle | Xuejiao Ba Xiyao Yang Yizhi Zhang Fang Guo Lihong Zhu Rui Tong Yanbin Yang Yuan Qian Hongqing Zhang Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation Frontiers in Pediatrics kabuki syndrome congenital heart disease KMT2D gene de novo mutation hyperinsulinemic hypoglycemia |
| title | Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation |
| title_full | Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation |
| title_fullStr | Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation |
| title_full_unstemmed | Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation |
| title_short | Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation |
| title_sort | case report of kabuki syndrome in a newborn caused by kmt2d gene mutation |
| topic | kabuki syndrome congenital heart disease KMT2D gene de novo mutation hyperinsulinemic hypoglycemia |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1455609/full |
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