Neonatal Kabuki syndrome caused by KMT2D mutation: A case report.

Journal

Medicine

ISSN: 1536-5964

Titre abrégé: Medicine (Baltimore)

Pays: United States

ID NLM: 2985248R

Informations de publication

Date de publication:
15 Dec 2023

Historique:

medline: 20 12 2023

pubmed: 20 12 2023

entrez: 20 12 2023

Statut: ppublish

Résumé

Kabuki syndrome (KS) is an autosomal dominant inherited syndrome that involves multiple organs and systems. Gene mutation is the main cause of KS. The reported mutations in X-linked histone H3 lysine 4 methylase (KMT2D) and KDM6A genes are 2 relatively clear pathogenic pathways. In this paper, we report a case of KS with neonatal hypoglycemia and special features caused by KMT2D gene mutation confirmed by whole exome sequencing, it enriched the clinical phenotype spectrum and gene mutation spectrum of KS, which helps to improve the understanding of the disease. Through whole exome sequencing, we performed gene diagnosis of a newborn child with special facial features and multiple malformations, which revealed heterozygous mutation of NM_003482.3:c.755dupA(p.His252Glnfs*21) in KMT2D gene. It is consistent with the pathogenesis of KS, an autosomal dominat genetic disease caused by KMT2D gene mutation. This pathogenic mutation has not been prebiously reported. KS has strong clinical characteristics and biological heterogeneity. Genetic diagnosis can help identify mutant gene types. However, the relationship between genotype and phenotype has not been fully clarified. The molecular etiological mechanism still needs to be further explored and elucidated.

Sections du résumé

BACKGROUND BACKGROUND

CASE REPORT METHODS

Through whole exome sequencing, we performed gene diagnosis of a newborn child with special facial features and multiple malformations, which revealed heterozygous mutation of NM_003482.3:c.755dupA(p.His252Glnfs*21) in KMT2D gene. It is consistent with the pathogenesis of KS, an autosomal dominat genetic disease caused by KMT2D gene mutation. This pathogenic mutation has not been prebiously reported.

DISCUSSION CONCLUSIONS

KS has strong clinical characteristics and biological heterogeneity. Genetic diagnosis can help identify mutant gene types. However, the relationship between genotype and phenotype has not been fully clarified. The molecular etiological mechanism still needs to be further explored and elucidated.

Identifiants

DOI: 10.1097/MD.0000000000036681 PMID: 38115267

pubmed: 38115267

doi: 10.1097/MD.0000000000036681

pii: 00005792-202312150-00028

doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

Pagination

e36681

Informations de copyright

Déclaration de conflit d'intérêts

The authors have no funding and conflicts of interest to disclose.

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