deafness, autosomal dominant 39, with dentinogenesis imperfecta 1

Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 is a condition that primarily affects hearing and dental development. It is associated with changes in the DSPP gene, which plays a key role in the formation of dentin, an essential component of healthy teeth. The condition is inherited in an autosomal dominant manner, meaning that a single copy of the altered gene can lead to the disorder. Although precise prevalence data are not available, clinical experience suggests that the presentation can vary among affected individuals.

The clinical presentation of this condition typically involves hearing loss along with dental abnormalities that may include issues with dentin formation leading to brittle or discolored teeth. Because detailed phenotype data are not available, descriptions of symptoms are based on the key features implied by the name of the syndrome. Not all individuals experience all features, and severity varies considerably from person to person. This variability highlights that some individuals may have milder manifestations while others could experience more noticeable effects on hearing and dental health.

This condition results from pathogenic variants in the DSPP gene, which is important for the development and maintenance of dental tissue. In autosomal dominant inheritance, a single altered copy of DSPP is sufficient to be associated with the disorder, and affected individuals may have a family history of similar symptoms. That even within the same family, the severity and specific features can vary considerably due to variable expressivity. Genetic counseling is recommended to help families understand the implications of this inheritance pattern.

Currently, management focuses on supportive care and symptom management, with treatment tailored to the needs of each individual. Supportive therapies may include interventions to improve hearing, such as hearing aids, as well as dental treatments to address issues with tooth development and maintenance. A multidisciplinary team, including audiologists, dentists, and genetic counselors, can provide comprehensive care and help optimize quality of life. Patients should discuss treatment options with their healthcare team to determine the most appropriate approach for their situation.

The long-term outlook for individuals with this condition is variable and depends on the severity of hearing loss and dental issues, as well as access to supportive care. With current standards of care, many affected individuals experience a good quality of life and benefit from interventions that address their symptoms. Outcomes described in medical literature continue to evolve as standards of care improve. Families often find it helpful to connect with specialists who are familiar with the condition and to seek genetic counseling for guidance on family planning.