EHMT1, also known as euchromatic histone lysine methyltransferase 1, is a gene that encodes a protein involved in the epigenetic regulation of gene expression. This gene is associated with several genetic and neurological conditions, including Kleefstra syndrome (KS) and some cases of intellectual disability.

Here are some key points about EHMT1:

Gene Function: EHMT1 encodes a protein called euchromatic histone lysine methyltransferase 1 (EHMT1), which is involved in modifying histone proteins. Histones are proteins that help package DNA in the cell nucleus. EHMT1 specifically adds methyl groups to histone H3 at a particular lysine residue, contributing to epigenetic regulation of gene expression.

Kleefstra Syndrome (KS): Mutations or deletions in the EHMT1 gene are a known genetic cause of Kleefstra syndrome (KS). KS is a rare genetic disorder characterized by intellectual disability, developmental delays, and a range of physical and neurological features. It is part of the Kleefstra spectrum disorders.

Intellectual Disability: Mutations in EHMT1 are associated with intellectual disability and developmental delays in individuals with KS.

Language and Behavioral Challenges: Individuals with EHMT1 mutations may also experience speech and language difficulties and behavioral issues, such as hyperactivity and self-injurious behaviors, which are common features of KS.

Seizures: Some individuals with EHMT1 mutations may experience seizures.

Recurrent Infections: There can be an increased susceptibility to respiratory infections in affected individuals.

Nonverbal or Limited Speech: Many individuals with KS and EHMT1 mutations have limited speech and language abilities, and some may be nonverbal.

Gastrointestinal Issues: Gastrointestinal problems, such as gastroesophageal reflux disease (GERD) and feeding difficulties, may occur.

EHMT1 mutations are typically de novo, meaning they occur for the first time in the affected individual and are not inherited from their parents. These mutations disrupt the normal function of EHMT1, leading to alterations in chromatin regulation and gene expression.

Management of Kleefstra syndrome and related conditions often involves a multidisciplinary approach, including speech therapy, physical therapy, and behavioral interventions. Early intervention services and educational support are crucial to help individuals with these conditions reach their full potential.

Research into EHMT1 and related genetic disorders is ongoing, and additional information may continue to emerge regarding the gene's role in development and function. Genetic counseling is recommended for families affected by these conditions to understand the specific genetic changes and associated risks.