The LHFPL5 gene helps specialized cells in the inner ear turn sound vibrations into signals the brain can read. If this gene does not work properly, those cells cannot pass along sound normally, which can lead to hearing loss from birth or early childhood. Pathogenic variants in both copies of the LHFPL5 gene are linked to an inherited form of sensorineural hearing loss, meaning the hearing loss starts in the inner ear and is not part of a broader genetic condition.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes hold the instructions for producing proteins, the parts of cells that do much of the work. Other genes mainly help direct when certain processes happen, where they happen, and how strongly they occur. Taken together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. To explore this topic in greater depth, you can find more in the LearnHub.
Overview
LHFPL5Gene function
What if the gene works
The LHFPL5 gene helps inner ear hair cells turn sound vibrations and head movement into nerve signals. This supports normal hearing and also contributes to balance.
Risk
What if the gene does not work
Variants in the LHFPL5 gene most often cause hearing loss present from birth, usually severe to profound. Milder and more severe variants can affect how much hearing is reduced, and some people may also have balance difficulties.
Treatment
What does that mean for your treatment
No LHFPL5-specific treatment or drug choice is currently established in clinical guidelines. Care follows standard hearing loss management rather than a medicine tailored to the LHFPL5 gene. The LHFPL5 gene is being studied in early preclinical inner ear gene therapy research.
Conditions associated with LHFPL5
Gene function
What if the gene works
Hearing depends on tiny sensory cells in the inner ear that turn movement into nerve signals. The LHFPL5 gene helps these cells respond to sound waves and head motion. Its protein sits in the hair-like projections on these cells and supports their normal sensing machinery.
The LHFPL5 gene helps inner ear hair cells turn sound vibrations into electrical signals your brain can use. It supports the sensing machinery in the hair-like projections that move with sound.
This gene also supports hair cells that detect head movement and body position. These cells use the same basic system to send balance information from the inner ear to the brain.
Inside the cluster of tiny hair-like projections, LHFPL5 helps keep key sensing proteins in the right place. This steady arrangement allows the cell's motion detector to work smoothly during everyday hearing and balance.
What is a variant?
A genetic variant is a minor difference in a gene’s DNA sequence. These changes are common and help account for normal human diversity, including differences in appearance, metabolism, or how the body responds to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the LHFPL5 gene can change the shape or placement of a protein that inner ear hair cells need to turn sound vibrations into nerve signals. Some LHFPL5 gene variants leave a little activity, while more severe variants may stop the protein from reaching the right part of the cell or working with partner proteins. This reduced function is linked to hearing loss, and more disruptive variants often lead to earlier, more marked changes.
How variants are linked to conditions
Pathogenic variants in both copies of the LHFPL5 gene cause DFNB67, an inherited form of nonsyndromic sensorineural hearing loss. This LHFPL5 gene hearing loss usually begins before a child learns to speak and is often severe to profound. The diagnosis points to hearing being affected, while other body systems are typically not involved.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are widely found across the general population. Most do not directly affect health and instead reflect normal human variation. For many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences play a role. In some situations, though, one well-characterized variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For LHFPL5, risk is mainly shaped by inheritance rather than lifestyle. A child is most likely to be affected when both parents carry a harmful LHFPL5 change, so family history and parents being biologically related can raise the chance. There is not enough evidence to say that diet, exercise, or other daily habits change this genetic risk.
Inheritance of LHFPL5 variants
For families asking about the inheritance of LHFPL5 gene variants, the well-established pattern is autosomal recessive. This means a child usually inherits one changed copy of the LHFPL5 gene from each parent, and parents who each carry one variant typically do not have hearing loss themselves. When both parents are carriers, each pregnancy has a 25% chance of a child inheriting both variants, a 50% chance of being a carrier, and a 25% chance of inheriting neither variant. Boys and girls are affected equally.
What does my LHFPL5 result mean for my family?
Changes in the LHFPL5 gene are linked to an inherited form of hearing loss that usually runs in families in a recessive pattern. For family members, this often means parents are healthy carriers, brothers or sisters may also have hearing loss or be carriers, and other relatives could carry the same gene change without knowing it. If a specific LHFPL5 result has been found in one person, that information can help clarify what it may mean for close relatives.
Genetic information
Genetic testing
How you find out about variants
To find out about LHFPL5 variants, genetic testing reads DNA from a blood, saliva, or cheek swab sample, usually through a hearing loss gene panel or a broader DNA test. LHFPL5 genetic testing can identify variants in both copies of the gene and help clarify whether the hearing loss has a genetic cause.
When should I consider getting a genetic test?
You may consider testing of the LHFPL5 gene if there is unexplained hearing loss that starts at birth or in early childhood, especially when it affects both ears or runs in the family. A result can help clarify whether an inherited gene change is the cause and may help guide family planning discussions.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but how much it explains varies by the condition and the type of variant involved. Over time, many factors shape how the body works, including lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best understood alongside other parts of care. In other situations, it may offer a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, has less effect in another, or causes more side effects in someone else. Small differences in how the body absorbs, breaks down, transports, or responds to a drug are common, and they can influence how strongly a medicine works or how sensitive a person is to it.
What is Pharmacogenetics?
Pharmacogenetics looks at how differences in a person’s genes can affect their response to medications. It examines links between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes influence both how strongly a drug works and how the body processes it. This information can support more informed and individualized treatment decisions. To explore this subject in more detail, you can learn more in the LearnHub.
Drugs influenced by the LHFPL5 gene
When should I seek medical advice?
There is no broadly confirmed evidence that changes in this gene affect how medicines work, so questions about symptoms, side effects, or treatment choices are best discussed with your doctor.