HomeGeneticsGeneDLG4 gene
Back to Gene
DLG4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DLG4 gene

The DLG4 gene provides instructions for a protein critical to synaptic plasticity, the process that allows brain cells to adapt and is essential for learning and memory.

Normal Function

The DLG4 gene provides instructions for making a protein that plays a role in nerve cells (neurons) in the brain. The DLG4 protein is found at synapses, the connections between neurons where cell-to-cell communication occurs. At these synapses, the DLG4 protein interacts with other proteins to regulate synaptic plasticity, which allows synapses to change and adapt over time in response to experiences. This process is critical for learning and memory.

Health Conditions Related to Genetic Changes

DLG4-related synaptopathy

Variants (mutations) in the DLG4 gene cause DLG4-related synaptopathy. This condition affects neurological development and often presents with the following:

  • Intellectual disabilities
  • Delayed development
  • Movement disorders
  • Seizures

Most variants impair the normal function of the DLG4 protein by decreasing its ability to interact with other proteins involved in synaptic plasticity or by hindering its ability to help synapses send signals. Other variants prevent the production of any normal DLG4 protein. The signs and symptoms of this condition are likely caused by the reduced ability of synapses to change and adapt during important periods of brain development.

Frequently Asked Questions

While many genetic conditions cause intellectual disability, DLG4-related synaptopathy is specifically characterized by its impact on synaptic plasticity, which often leads to a distinct combination of movement disorders, such as ataxia or tremors, alongside cognitive delays. Unlike some other neurodevelopmental disorders, seizures are a frequent and often prominent feature in DLG4 cases. The specific genetic variant can influence the severity, but the core issue remains the dysfunction at the synaptic level rather than a structural brain malformation.
Yes, if a specific DLG4 variant has been identified in a family, prenatal testing via chorionic villus sampling or amniocentesis can be offered to check for that specific mutation in a future pregnancy. A positive result indicates the fetus carries the variant, which is associated with a high likelihood of developing the condition, although the exact severity can vary. This information allows parents to prepare for medical needs or make informed reproductive decisions, but it does not guarantee a specific outcome for the child's quality of life.
Early signs often appear in infancy or early childhood and may include significant delays in reaching motor milestones, such as sitting or walking. Many children also exhibit hypotonia, or low muscle tone, and may have difficulty with feeding. While some infants may appear normal at birth, the progressive nature of the condition means that developmental regression or a plateau in skill acquisition is a common red flag that prompts further neurological and genetic evaluation.
There is no cure for DLG4-related synaptopathy, so treatment is symptomatic and supportive. Seizures are managed with antiepileptic drugs, though some patients may be resistant to standard therapies, requiring careful trial and error to find an effective regimen. Movement disorders are addressed through physical and occupational therapy to maintain mobility and prevent contractures. Early intervention services are critical to maximize developmental potential and provide support for learning and communication.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

kontakt@hittavard.se

Ⓒ 2024. Alla rättigheter förbehålls av juxt ab

Sök
Om ossVillkor och policyVanliga frågorKontakta oss