WDR72

WDR72

WDR72 is a gene that is associated with a rare genetic disorder known as Amish infantile epilepsy syndrome or WDR72-related disorder. This disorder primarily affects the Amish population, although a few cases have been reported in other populations as well. The WDR72 gene is located on chromosome 15 and plays a crucial role in the development and function of the brain.

Discovery

The discovery of the WDR72 gene and its association with Amish infantile epilepsy syndrome was a significant breakthrough in the field of genetics. The first case of this disorder was reported in the Amish community in 2008, and subsequent research led to the identification of the WDR72 gene as the underlying cause.

Clinical Features

Individuals with WDR72-related disorder typically present with seizures within the first few months of life. These seizures are often resistant to conventional anti-epileptic medications, making the management of this disorder challenging. Other common features include developmental delay, intellectual disability, and movement abnormalities.

Genetics

The WDR72 gene provides instructions for the production of a protein called WD repeat-containing protein 72. This protein is involved in various cellular processes, including the development and maintenance of neuronal connections in the brain. Mutations in the WDR72 gene disrupt the normal functioning of this protein, leading to the symptoms observed in individuals with WDR72-related disorder.

Diagnosis

Diagnosis of WDR72-related disorder is typically based on clinical features, family history, and genetic testing. Genetic testing can identify mutations in the WDR72 gene, confirming the diagnosis. It is important to note that not all individuals with this disorder will have detectable mutations, highlighting the need for further research in this area.

Treatment

Currently, there is no specific treatment available for WDR72-related disorder. Management primarily focuses on controlling seizures and providing supportive care to address developmental and intellectual disabilities. Early intervention programs, including physical and occupational therapy, can help improve the quality of life for affected individuals.

Research and Future Directions

Research on WDR72-related disorder is ongoing, with the aim of better understanding the underlying mechanisms and developing targeted therapies. The identification of additional genes and pathways involved in this disorder may provide new avenues for treatment and management.

References

1. Amish infantile epilepsy syndrome - Genetics Home Reference 2. Chromosome 15 - Genetics Home Reference 3. Genetic testing - MedlinePlus 4. Seizures - MedlinePlus

See Also

• Genetic disorder
• Epilepsy
• Neurodevelopmental disorders