DFNB31
Understanding DFNB31: A Complex Genetic Disorder of Hearing Loss
Description
DFNB31, also known as nonsyndromic sensorineural hearing loss, is a genetic disorder that primarily affects the ability to hear. It is characterized by progressive hearing loss that typically begins in early childhood and continues to worsen over time.
The disorder is caused by mutations in the gene MYO15A, which encodes for a protein called myosin XVA. Myosin XVA is involved in the proper function of the inner ear, particularly the cochlea. Mutations in MYO15A disrupt the normal activity of myosin XVA, leading to damage to the inner ear structures and hearing loss.
Associated Diseases
DFNB31 can occur as an isolated disorder or in combination with other conditions, such as:
- Usher syndrome: A genetic disorder that affects both hearing and vision.
- Stickler syndrome: A connective tissue disorder that can cause joint and facial problems.
- Waardenburg syndrome: A condition that affects the development of the eyes, hair, and skin.
Did you Know ?
Approximately 1 in 5,000 individuals worldwide are affected by DFNB31, making it one of the most common types of hereditary hearing loss.
