Kinky hair disease is a disorder where an affected child has peculiar white stubby hair, does not grow, brain degenration is seen and dies by age of two years. Mrs A is hesitant about having children because her two sisters had sons who had died from kinky hair disease. Her mother’s brother also died of the same condition. Which of the following is the possible mode of inheritance in her family?
High-Yield Explanation
Ref: Harrison’s 18/e p501
Menkes kinky hair syndrome is a disorder that affects the copper levels leading to copper deficiency.
It is an X-linked recessive disorder due to mutations in the ATP7A gene on chromosome Xq21.1.
Children with this disease often die before 5 years due to dissecting aneurysms or cardiac rupture