A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation
Abstract
Kabuki syndrome (KS) is a rare syndrome that involves defects in a wide range of organs, with each organ showing a different severity of symptoms. Two genes have been associated with patients with KS: lysine (K)-specific demethylase 6A (KDM6A) and lysine (K)-specific methyltransferase 2D (KMT2D). The study reported the case of an 18-month-old Turkish boy diagnosed with KS. The patient showed a typical appearance: widely separated eyes, sparse eyebrows, long palpebral fissures, blue sclera, large prominent ears, and micrognathia. The patient was operated on because of bilateral hip dislocation and undescended testicles. He was also followed up by pediatric gastroenterology with asymptomatic liver enzyme elevation (AST- 79 U/L, ALT -68 U/L, ALP -52 U/L). The whole exome sequencing analysis revealed a novel pathogenic c.13285 C>T (p.Gln4429Ter) mutation in the KMT2D gene. The genotype-phenotype correlation of KS was not precisely established. As per our knowledge, there is limited literature which gives information about the hepato-biliary manifestations of KS. Here, we propose that the new mutation of the KMT2D gene may result in the typical facial features of KS with asymptomatic elevated liver enzymes.
Read the paper
Related studies
- Diagnosis and management of glutaric aciduria type I – revised recommendations
- EZH2 Codon 641 Mutations are Common in BCL2-Rearranged Germinal Center B Cell Lymphomas
- Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
- Systemic Metabolomic Changes in Blood Samples of Lung Cancer Patients Identified by Gas Chromatography Time-of-Flight Mass Spectrometry
- Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin
- Discovery of Novel Recurrent Mutations in Childhood Early T-Cell Precursor Acute Lymphoblastic Leukemia by Whole Genome Sequencing - a Report From the St Jude Children's Research Hospital - Washington University Pediatric Cancer Genome Project
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.