Human Heredity 9th Edition by Michael Cummings

Exercise 2

A genetic counselor was called to the pediatric ward of the hospital for a consultation. Her patient, an 8-year-old boy, was having a "temper tantrum" and was biting his own fingers and toes. The nurse called after she noticed that he was a patient of a clinical geneticist at another institution. The counselor reviewed the boy's chart and noted a history of growth retardation and self-mutilation since age 3. His movements were very "jerky," and he was banging his head against the bedpost. The nurses were having a very difficult time controlling him. The counselor immediately recognized these symptoms as part of a genetic disorder known as Lesch-Nyhan syndrome.
Lesch-Nyhan syndrome is an X-linked recessive condition (Xq26) caused by mutation in the hypoxanthine phosphoribosyltransferase gene, and it affects about 1 in 100,000 males. Symptoms usually begin between the ages of 3 and 6 months. Prenatal testing is avail-able, but there is no treatment for Lesch-Nyhan, and most affected individuals die by the second decade of life.
Lesch-Nyhan syndrome is quite rare (i in 100,000 males), but its effects are devastating. Would you support an effort to screen every developing fetus for this disorder? Explain.