The ADAMTS10 gene helps build and organize connective tissue, the supportive material that gives strength and stretch to the eyes, skin, joints, and heart. If it does not work properly, some people develop a rare inherited condition called Weill-Marchesani syndrome, which can involve short stature, stiff joints, and eye problems such as a small or displaced lens. This gene also supports normal tissue shaping during growth. ADAMTS10 is mainly known in medical genetics rather than popular culture.
What is a gene?
Genes are stretches of DNA that carry instructions cells use to make molecules or regulate activities in the body. Some genes provide the directions for producing proteins, which are the parts of cells that do the work. Others are used mainly to guide when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. For a deeper look at this subject, you can find more in the LearnHub.
Overview
ADAMTS10Gene function
What if the gene works
The ADAMTS10 gene helps build and organize connective tissue, the material that supports the eyes, heart, skin, and bones. Its protein supports tiny fibrillin fibers that give tissues strength and stretch.
Risk
What if the gene does not work
Variants in the ADAMTS10 gene most often cause Weill-Marchesani syndrome, with short stature, stiff joints, and eye problems such as lens changes that can affect vision. Milder and more severe variants can influence which features appear and when.
Treatment
What does that mean for your treatment
No ADAMTS10-specific treatment or drug-selection approach is currently established. ADAMTS10 is being studied for its role in connective tissue and eye disease, but this has not yet led to a gene-directed therapy.
Conditions associated with ADAMTS10
Gene function
What if the gene works
Many body parts rely on connective tissue to stay shaped, steady, and flexible. In your body, the ADAMTS10 gene supports the outside framework around cells and helps organize tiny support fibers. This helps tissues handle everyday stretching and movement in a balanced way.
The ADAMTS10 gene helps arrange tiny support fibers in connective tissue. These fibers help tissues keep their shape while still allowing some stretch.
Its protein works in the extracellular matrix (the material between cells) that gives tissues structure. This surrounding framework helps cells stay in place and supports normal connective tissue strength and flexibility.
By shaping the space around cells, the ADAMTS10 gene helps tissues stay organized over time. This supports steady tissue maintenance as cells grow, move, and respond to everyday wear.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help explain normal differences between people, such as appearance, metabolism, or the way the body reacts to environmental influences. Many variants do not have any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant can affect how a gene works to a greater extent and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the ADAMTS10 gene can alter the protein’s shape, make it less stable, or weaken how it is released from cells and attaches to supportive tissue fibers. Understanding how ADAMTS10 gene variants affect protein function helps explain why milder variants may leave some activity, while more severe variants can sharply reduce or stop it. In people with Weill-Marchesani syndrome, that difference can influence how early features appear and how noticeable they are.
How variants are linked to conditions
Pathogenic variants in the ADAMTS10 gene are a well-established cause of Weill-Marchesani syndrome, an inherited condition linked to short stature, unusually stiff joints, and eye findings such as severe nearsightedness or lens problems. In this setting, finding disease-causing changes in both copies of the ADAMTS10 gene can confirm the diagnosis. ADAMTS10 gene variants linked to Weill-Marchesani syndrome do not explain all cases, because other genes can cause a similar condition.
A variant is not necessarily a diagnosis
Genetic variants are a usual feature of human biology, and they are widespread across the general population. Most do not directly affect health and simply 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 other situations, though, one well understood variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For ADAMTS10, risk is mainly shaped by family genetics rather than lifestyle. If both parents carry a disease-causing ADAMTS10 change, each pregnancy has a 25% chance of the child inheriting the condition. Other factors that clearly increase or reduce risk have not been broadly confirmed.
Inheritance of ADAMTS10 variants
For the main well-established condition linked to this gene, ADAMTS10 gene inheritance follows an autosomal recessive pattern. This means a person usually inherits one altered copy from each parent, and parents who each carry one variant are typically unaffected carriers; with each pregnancy, there is a 25% chance of an affected child, a 50% chance of a carrier child, and a 25% chance of a child with two non-variant copies. Because the ADAMTS10 gene is on chromosome 19, it is inherited equally by people of any sex.
What does my ADAMTS10 result mean for my family?
ADAMTS10 changes are best known for a rare inherited condition called Weill-Marchesani syndrome, which usually runs in families in a recessive pattern. For family members, this often means parents may be healthy carriers, and brothers or sisters could also be affected or be carriers. Close relatives may want to learn whether the same gene change is present, especially if there is a family history of short stature, eye problems, or unusually stiff joints.
Genetic information
Genetic testing
How you find out about variants
To find out whether you carry an ADAMTS10 variant, doctors use ADAMTS10 genetic testing on a blood or saliva sample. The lab reads the DNA code of the ADAMTS10 gene and looks for changes linked with Weill-Marchesani syndrome, then compares them with known variant databases and your clinical findings.
When should I consider getting a genetic test?
Testing for ADAMTS10 may be worth considering if you or your child has signs of Weill-Marchesani syndrome, such as short stature, very stiff joints, unusual eye problems like a lens that slips out of place, or a family history of this condition. It can help confirm the cause and clarify risks for relatives.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it explains depends on the condition and the type of variant involved. Over time, many factors, including lifestyle, environment, age, and medical history, influence how the body functions. For some conditions, especially those affected by many genes, genetic information offers context rather than certainty and is most useful when viewed alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body responds to medicines. Some people break down a drug faster or slower than others, which can change how well it works or how likely side effects are. These differences are common and are one reason the same treatment may feel helpful for one person but less effective or harder to tolerate for another.
What is Pharmacogenetics?
Pharmacogenetics examines the ways genetic differences can affect how people respond to medicines. By studying links between genes and medications, it helps explain why the same treatment may work differently from one person to another. For many drugs, genes can influence both how powerfully a medicine works and how the body handles it. This information can support treatment choices that are more informed and more tailored to the individual. You can read more about this topic in the LearnHub.
Drugs influenced by the ADAMTS10 gene
When should I seek medical advice?
There is no broadly confirmed role for this gene in guiding medication choice or dose. If you have concerns about a medicine, side effects, or changes in your health, discuss them with your doctor or pharmacist.