autosomal recessive nonsyndromic hearing loss 1A

Autosomal recessive nonsyndromic hearing loss 1A is a congenital disorder affecting the auditory system, typically resulting in profound sensorineural hearing loss. The condition is primarily caused by pathogenic variants in the GJB2 gene, which encodes the gap junction beta-2 protein important for inner ear function. Although hearing impairment is the hallmark feature, a subset of affected individuals may also experience abnormal vestibular function. Precise prevalence estimates are not well established, and the severity of symptoms can vary significantly between individuals.

Individuals with this condition usually present with significant hearing loss detected early in life, which is the primary feature leading to diagnosis. In addition to hearing impairment, between approximately 5% and 29% of affected individuals may experience abnormal vestibular function, which can impact balance. Not all individuals experience every feature, and the intensity of symptoms can vary considerably from one person to another.

The condition results from pathogenic variants primarily in the GJB2 gene, although genetic testing may also assess GJB3 and GJB6 given their inclusion in the known gene list. The gap junction beta-2 protein, produced by GJB2, plays a crucial role in the inner ear by regulating the flow of ions necessary for normal auditory function. Autosomal recessive inheritance means that two copies of the altered gene, one inherited from each parent, are typically required for the condition to manifest. Genetic counseling is recommended to help families understand the implications of these findings for family planning.

Currently, management focuses on supportive care and symptom management, as there are no treatments specifically approved for this condition. A multidisciplinary team approach, including audiologists, speech therapists, and other specialists, is typically used to tailor interventions to each individual's needs. Genetic counseling is also an important part of the care process, as patients and families benefit from understanding the genetic aspects of the condition and discussing management options with their healthcare team.

The long‐term outlook for individuals with autosomal recessive nonsyndromic hearing loss 1A varies, with outcomes strongly influenced by symptom severity, age at diagnosis, and access to early intervention and supportive care. With current standards, many affected individuals adapt well to their hearing impairment through the use of hearing aids, assistive devices, and other support services. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with genetic counselors and specialists familiar with hearing loss to discuss management strategies and resources.

Clinical trials are underway exploring new treatment approaches for this condition. Individuals interested in clinical trials can search ClinicalTrials.gov or consult their care team to learn about eligibility and emerging therapies.