Case report of kabuki syndrome in a newborn caused by KMT2D gene mutation.

ABSTRACT:

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

SUBMITTER: Ba X 

PROVIDER: S-EPMC11637833 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature