A Novel <i>KMT5B</i> Frameshift Variant Presenting with Autism and Psychiatric Features: Intrafamilial Phenotypic Variation - A Case Report.

ABSTRACT:

Introduction

Pathogenic variants in the KMT5B gene, encoding a lysine methyltransferase involved in chromatin remodeling, have been associated with intellectual disability, autism spectrum disorder, and various craniofacial features. However, the detailed genotype-phenotype correlations have yet to be fully elucidated.

Case presentation

We report a four-year-old male patient who presented with developmental delay, impaired social interaction, repetitive behaviors, and language delay. Whole-exome sequencing identified a novel heterozygous frameshift variant in KMT5B (c.618del; p.Glu206Aspfs*7). Segregation analysis revealed that the patient's father also carried the same variant and exhibited intellectual disability and obsessive-compulsive disorder.

Conclusi

SUBMITTER: Ozcan S 

PROVIDER: S-EPMC12707956 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature