Unlocking the Mystery of Progressive Sensorineural Hearing Impairment: Genetic Testing and Beyond

Expert Reviewed By: ⁠Dr. Brandon Colby MD

Progressive sensorineural hearing impairment (PSHI) is a complex and often misunderstood condition that affects many individuals worldwide. This type of hearing loss is characterized by a gradual decline in the ability to hear, typically starting in childhood or early adulthood. As the condition progresses, it can significantly impact an individual’s quality of life and communication abilities. In recent years, researchers have made significant strides in understanding the genetic factors that contribute to PSHI, paving the way for more accurate diagnosis and targeted treatment options. This article will explore the latest insights into the genetic causes of PSHI and the potential benefits of genetic testing for individuals with this condition.

Understanding the Genetic Basis of Progressive Sensorineural Hearing Impairment

Although PSHI can arise from various causes, including environmental factors and aging, many cases have a strong genetic component. Several genes have been implicated in the development of PSHI, and mutations in these genes can lead to different forms of the condition. Some of the key genes and associated conditions include:

1. Mitochondrial DNA mutations and NSSHI

A study by Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment screened 202 subjects with congenital/childhood onset non-syndromic sensorineural hearing impairment (NSSHI) to determine the prevalence of mitochondrial DNA (mtDNA) mutations associated with NSSHI. Results showed a low prevalence (2%) but suggested screening in certain cases.

2. SMPX gene mutations and X-linked nonsyndromic hearing loss

A study titled A novel frameshift mutation of SMPX causes a rare form of X-linked nonsyndromic hearing loss in a Chinese family identified a novel frameshift mutation in the SMPX gene, causing nonsyndromic late-onset progressive hearing loss and congenital hearing impairment in a Chinese family. This finding extends the mutation and phenotypic spectrum of the SMPX gene.

3. TECTA gene mutations and DFNA8/12

An article on Hereditary Hearing Impairment. Clinical and Genetic Aspects of DFNA8/12, Usher syndrome type III, and Wolfram syndrome discusses the autosomal dominant inherited disorder DFNA8/12, which causes mild-to-severe progressive hearing impairment. Mutations in the TECTA gene affect the tectorial membrane in the cochlea and the otolith membrane in the vestibular system.

4. NDRG1 gene mutations and Charcot-Marie-Tooth disease

A study called A splice altering variant in NDRG1 gene causes Charcot-Marie-Tooth disease, type 4D reports a splice-altering variant in the NDRG1 gene causing Charcot-Marie-Tooth disease, a type of hereditary motor and sensory neuropathy.

Benefits of Genetic Testing for Progressive Sensorineural Hearing Impairment

As our understanding of the genetic factors underlying PSHI continues to grow, genetic testing has emerged as a valuable tool for diagnosing and managing this condition. Some of the key benefits of genetic testing for PSHI include:

1. Improved diagnosis and prognosis

Genetic testing can help identify the specific gene mutation responsible for an individual’s PSHI, providing a more accurate diagnosis and a better understanding of the likely progression of their condition. This information can be invaluable for both patients and healthcare providers, enabling them to make more informed decisions about treatment and management options.

2. Identification of at-risk family members

Many forms of PSHI are inherited, meaning that family members may also be at risk of developing the condition. Genetic testing can help identify individuals who carry the same gene mutation as their affected relative, allowing them to take proactive steps to monitor and manage their hearing health.

3. Prenatal and preimplantation genetic testing

For families with a history of PSHI, genetic testing can be used to screen embryos during in vitro fertilization (IVF) or to test a developing fetus during pregnancy. This information can help parents make informed decisions about their reproductive options and prepare for the potential needs of a child with PSHI.

4. Informing research and treatment development

As more individuals with PSHI undergo genetic testing, researchers can gain a better understanding of the various gene mutations that contribute to this condition. This knowledge can help drive the development of new treatments and interventions, ultimately improving the lives of those affected by PSHI.

In conclusion, genetic testing offers significant potential for improving the diagnosis, management, and treatment of progressive sensorineural hearing impairment. As our understanding of the genetic factors underlying this condition continues to grow, it is likely that genetic testing will play an increasingly important role in the care of individuals with PSHI and their families.

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)