Genetic Risk Factors for X-Linked Hypophosphatemia
X-linked hypophosphatemia is an inherited condition associated with a mutation on the X chromosome. It means that children with a family history of this disease may be at a higher risk. However, the inheritance pattern is different, depending on the gender. Male babies got one Y chromosome from the dad and two X chromosomes from the mom, while female babies got one X chromosome from the dad and two X chromosomes from the mom. If a dad had the mutation, no male children and all female children will get the mutated gene. If a mom had the mutation, every child has a 50 percent risk of getting the inherited mutation. Overall, the risk of developing the disease is higher in male babies than in female babies due to having more X chromosomes. In some cases, X-linked hypophosphatemia may also occur in people without a family history, which accounts for around 20 percent of reported cases. This is known as a de novo mutation, which means the mutation is not inherited from a mom or a dad. [4]
