SNP Shot: Genomic Insights

Weill-Marchesani syndrome (WMS) is a condition affecting connective tissue, the tissue that supports and strengthens the body's structures like muscles, joints, organs, and skin.

Key features of WMS involve short stature, eye problems, unusually short fingers and toes (brachydactyly), and stiff joints. Typically, men with WMS reach adult heights between 4'8" and 5'6", while women's adult heights range from 4'3" to 5'2".

A common eye problem in WMS is microspherophakia, where the lens of the eye is smaller and more spherical than normal. This often leads to worsening nearsightedness (myopia). Additionally, the lens may be displaced (ectopia lentis). Glaucoma, a condition causing increased eye pressure and potential blindness, is also frequently seen in individuals with WMS.

In some instances, people with Weill-Marchesani syndrome may develop heart defects or irregular heartbeats.

Inheritance:

WMS can be passed down through families in two ways: autosomal recessive or autosomal dominant. When WMS results from mutations in the ADAMTS10 gene, it follows an autosomal recessive inheritance pattern. This means that both copies of the gene must have a mutation for the condition to develop. Individuals with autosomal recessive WMS inherit one mutated copy of the gene from each parent, who are typically carriers without symptoms themselves. Conversely, WMS cases caused by mutations in genes like FBN1 are inherited in an autosomal dominant manner. In this case, only one copy of the mutated gene is sufficient to cause the disorder. Usually, the affected individual inherits the altered gene from a parent who also has the condition.