Adamtsl4-related eye disorders
How are ADAMTSL4-related eye disorders inherited?
We each typically have 2 copies of the ADAMTSL4 gene, one from our mother and one from our father. In order to have an ADAMTSL4-related eye disorder, both copies of the ADAMTSL4 gene need to have changes or mutations that make the gene not work properly. This is called "autosomal recessive" inheritance. The changes in the two copies of the ADAMTSL4 gene can be the same change or different. As long as both changes make the gene work lessor not at all, the person will have an ADAMTSL4 -related eye disorder.
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What does it mean to have inherited a "variant" in the gene for ADAMTSL4-related eye disorders?
Everyone has differences in their genes which are the instructions that tell our bodies how to function properly. That's what makes us all different! A "variant" is a genetic difference that has never been seen before or is not understood very well. You can think of it like a misspelling in a word. If you have inherited a "variant" in ADAMTSL4, it means that there is a difference in how your ADAMTSL4 gene is "spelled", but that we don't yet know if this difference makes the gene work less or if it is just the way your ADAMTSL4 gene is normally spelled.
Since the ADAMTSL4-related eye disorders are caused by spelling changes in both of a person's ADAMTSL4 genes, it is possible to see someone who has one variant and one known mutation, or even someone with 2 variants. If this person is having symptoms of an ADAMTSL4-realted eye disorder, it makes it more likely that the variants are spelling differences that make the gene work less. If they are not having symptoms, it makes it more likely that this is just a normal spelling difference.
Are there forms of ADAMTSL4-related eye disorders that aren?t genetic?
ADAMTSL4-related eye disorders are always caused by differences in the ADAMTSL4 gene. The eye problems seen in these disorders, like slipping of the lens out of place, can be seen in non-genetic diseases, but that would not be called an ADAMTSL4-related eye disorder. In other words, not everyone with eye problems (like lenses slipping out of place) has an ADAMTSL4-related eye disorder. However, everyone with an ADAMTSL4-related eye disorder has changes in both their ADAMTSL4 genes.
What are the chances of having another child with an ADAMTSL4-related eye disorder?
If you already have a child with an ADAMTSL4-related eye disorder, this means that both parents are "carriers" for a change in the ADAMTSL4 gene. A "carrier" is someone who has a change in one of the two copies of ADAMTSL4. Since they still have one working copy, they don't have the disease but they can pass on the one genetic change to their child. When two parents are both carriers, the chance of two carriers having a child with an ADAMTSL4-related eye disorder is 1 in 4, or 25%. There is a 1 in 2, or 50%, chance that their child will be a carrier like them. Finally, there is a 1 in 4, or 25%, chance that the child will have both working copies of ADAMTSL4 gene.