The ADAMTS17 gene helps build and maintain connective tissue, especially in the eyes and parts of the skeleton. This gene plays an important role in keeping the eye lens supported and in normal growth. If it does not work properly, some people develop a condition linked to short stature, changes in the lens shape or position, and a higher chance of glaucoma. These variants usually cause health effects when both copies of the gene are affected.
What is a gene?
Genes are sections of DNA that carry information your cells use to make molecules or manage processes in the body. Some genes provide the instructions for making proteins, the working parts of cells. Other genes mainly help control when certain processes happen, where they take place, and how strongly they operate. Together, genes influence how the body develops and functions, and they can shape how you respond to food, stress, or medications. You can explore this topic further in the LearnHub.
Overview
ADAMTS17Gene function
What if the gene works
The ADAMTS17 gene helps organize the supportive material outside cells. This supports eye development and the strength and flexibility of tissues such as ligaments.
Risk
What if the gene does not work
Pathogenic variants in the ADAMTS17 gene most often cause Weill-Marchesani syndrome, with short stature, stiff joints, and eye changes such as lens dislocation or glaucoma. Milder and more severe variants may affect when features appear and how marked they are.
Treatment
What does that mean for your treatment
No ADAMTS17-specific treatment or drug selection approach is currently established.
Conditions associated with ADAMTS17
Gene function
What if the gene works
Connective tissues need a well organized framework to keep body structures supported and flexible. The ADAMTS17 gene helps build and maintain the material around cells that gives tissues their shape. Its protein works outside cells, where it supports tiny structural fibers. This helps explain how the ADAMTS17 gene supports connective tissue in the body.
The ADAMTS17 gene provides instructions for a protein that is released into the space around cells. There, it helps shape and maintain the extracellular matrix, the supportive material that surrounds cells.
Its protein helps organize fibrillin rich microfibrils, tiny fibers made partly from fibrillin that add strength and controlled stretch to connective tissue. This supports the normal arrangement of the body’s tissue framework.
By keeping the surrounding matrix in good order, this gene supports the steady upkeep of connective tissue. That balance helps tissues stay firm enough for support while still allowing normal flexibility.
What is a variant?
A genetic variant is a small difference in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not cause any noticeable effect and simply represent natural genetic variation. In some situations, however, 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 ADAMTS17 gene often reduce how much working protein is made or released outside the cell, because the altered protein may fold poorly, be unstable, or be cut short. This is how ADAMTS17 variants affect protein function in the supportive mesh around cells. Milder variants may leave some activity, while more severe stop, frameshift, or splice variants can remove function almost completely and are often linked to earlier or more marked eye and growth findings.
How variants are linked to conditions
Pathogenic variants in the ADAMTS17 gene cause a rare inherited form of Weill-Marchesani syndrome. People with Weill-Marchesani syndrome caused by variants in the ADAMTS17 gene often have short stature and eye findings such as severe nearsightedness, a displaced lens, or glaucoma. In this setting, an ADAMTS17 gene variant can confirm the diagnosis rather than simply showing a higher risk.
A variant is not necessarily a diagnosis
Variants in genes are a usual part of human biology, and they are widespread in the general population. Most do not have a direct effect on health and simply reflect the natural variation seen among people. For many genes, having a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors also play a role. There are exceptions, though. In some situations, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For ADAMTS17, risk is mainly shaped by the gene changes inherited in a family rather than by lifestyle or everyday exposures. There is not yet broadly confirmed evidence that specific outside factors clearly increase or lower the chance of developing an ADAMTS17-related condition.
Inheritance of ADAMTS17 variants
For families asking about the ADAMTS17 inheritance pattern, ADAMTS17-related conditions are inherited in an autosomal recessive way. This means a person usually inherits one ADAMTS17 gene variant from each parent. Parents who each carry one variant are often unaffected, and with each pregnancy they have a 25% chance of having a child with the condition, a 50% chance of having a child who is a carrier, and a 25% chance of having a child with neither familial variant. Sons and daughters are affected equally.
What does my ADAMTS17 result mean for my family?
Changes in the ADAMTS17 gene are most often linked to a recessive condition, so close relatives may also be carriers even if they do not have symptoms. Brothers and sisters could have the same condition or be carriers, and other family members may also carry the gene change. For family members, this mainly matters for learning who else might be affected and for future family planning.
Genetic information
Genetic testing
How you find out about variants
To find out about variants in the ADAMTS17 gene, genetic testing for ADAMTS17 variants uses a blood or saliva sample. A lab reads the DNA code in this gene and compares it with a reference sequence to identify changes that may help confirm a diagnosis or show whether you carry a variant.
When should I consider getting a genetic test?
Consider genetic testing for ADAMTS17 if you or your child has a pattern of early eye lens problems, severe nearsightedness, or glaucoma together with short stature and stiff joints, or if a close relative has a confirmed ADAMTS17-related condition. Testing can help confirm the cause and clarify family risk.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, but how much it reveals depends on the condition and on the type of variant involved. Many factors, including lifestyle, environment, age, and medical history, shape how the body works over time. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best understood together with other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can also help place individual experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body handles a medicine, so the same treatment may work differently from one person to another. Some people break down a drug more slowly or more quickly, while others are more or less sensitive to its effects. This is common and can influence how well a medicine helps, or how likely side effects are.
What is Pharmacogenetics?
Pharmacogenetics focuses on how differences in a person’s genes can affect the way they respond to medicines. By examining links between genes and medications, it helps explain why the same treatment may not work in the same way for everyone. For many drugs, genes influence both how strong a medicine’s effects are and how the body handles it. Understanding this can support treatment choices that are more informed and more tailored to the individual. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the ADAMTS17 gene
When should I seek medical advice?
There is no broadly confirmed role for this gene in guiding medication choice or dosing at this time. If you have questions about side effects, new symptoms, or how a treatment is working, especially after starting or changing a medicine, talk with your doctor.