Expert Reviewed By: Dr. Brandon Colby MD
Introduction to Autosomal Recessive Deafness 36
Deafness, autosomal recessive 36 (DFNB36), is a genetic disorder that causes severe hearing loss without vestibular involvement. This means that individuals affected by this condition experience profound hearing impairment but do not suffer from balance-related issues. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for the child to be affected. In recent years, advances in genetic testing have made it possible to diagnose and better understand this rare form of deafness.
Identifying the Genetic Culprits
Several studies have been conducted to identify the genetic mutations responsible for DFNB36. One such study, titled "Novel Loss-of-Function Mutations in COCH Cause Autosomal Recessive Nonsyndromic Deafness", discovered four new pathogenic variants in the COCH gene that cause autosomal recessive hearing loss. This expands the known mutational landscape of DFNB110, a subtype of DFNB36.
Improving Detection of Genetic Variants
Another study, titled "Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus", focused on improving the detection of copy number variations (CNVs) and zygosity assignment in the highly homologous DIS region. By manually analyzing clusters containing unique chromosomal microarray (CMA) probes, researchers were able to improve the accuracy of genetic testing for deafness-related conditions.
Prevalence and Genetic Determinants
A study titled "Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity" found that recessive inheritance of a severe long-QT syndrome type 1 phenotype without an auditory phenotype may be more common than previously anticipated. This suggests that there may be more individuals affected by DFNB36 than initially thought, further highlighting the importance of genetic testing for this condition.
Insights from Mouse Models
Mouse models have also been used to study DFNB36. A study titled "Inner Ear Morphology Is Perturbed in Two Novel Mouse Models of Recessive Deafness" presented two novel mouse models with Myo7a gene mutations and distinct phenotypes. These mouse models provide valuable insight into the mechanisms behind recessively inherited sensorineural hearing loss in humans.
Uses of Genetic Testing for DFNB36
Genetic testing for DFNB36 can be helpful in several ways:
- Diagnosis: Genetic testing can confirm the presence of DFNB36 in individuals experiencing hearing loss, allowing for a more accurate diagnosis and better understanding of the condition.
- Carrier screening: Couples planning to have children can undergo genetic testing to determine if they are carriers of the mutated gene responsible for DFNB36. This information can help them make informed decisions about family planning.
- Prenatal testing: Pregnant women who are known carriers of the mutated gene can undergo prenatal testing to determine if their unborn child is affected by DFNB36. This information can help parents prepare for the needs of their child and make decisions about their care.
- Research: Genetic testing can contribute to our understanding of the genetic basis of DFNB36 and other forms of deafness, which can ultimately lead to the development of new treatments and therapies.
Conclusion
As our understanding of the genetic underpinnings of autosomal recessive deafness 36 continues to grow, so too does the potential for improved diagnosis, carrier screening, and prenatal testing. By leveraging advancements in genetic testing, researchers, clinicians, and affected individuals can work together to better comprehend this rare form of deafness and work towards a future where effective treatments and therapies are available.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)