SNP Shot: Genomic Insights

Legg-Calvé-Perthes disease is a hip condition where the bone in the hip joint deteriorates. It typically affects one hip, although both hips are affected in roughly 10% of cases. This disease primarily occurs in children, most commonly between the ages of 4 and 8, and is more prevalent in boys than in girls.

The disease involves the breakdown of the femoral head, which is the top of the thigh bone. This breakdown causes the femoral head to lose its round shape, hindering its smooth movement within the hip socket. This leads to symptoms such as hip pain, limping, and limited leg mobility. The body initiates a natural bone remodeling process to repair the bone, where old bone is broken down and replaced with new bone. This cycle of bone breakdown and repair can repeat itself. Due to these bone abnormalities, those affected by Legg-Calvé-Perthes disease are often shorter than their peers. A common long-term complication is the early development of osteoarthritis in the hip joint.

Inheritance:

When Legg-Calvé-Perthes disease is linked to mutations in the COL2A1 gene, it follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated COL2A1 gene in each cell is enough to cause the disorder. Most cases related to COL2A1 are caused by new mutations in the gene, appearing in individuals with no family history of the condition; these are known as sporadic cases. Other times, the condition is inherited from one parent who carries the mutation; these are referred to as familial cases.