The parents learn that their newborn has the CFTR gene located on chromosome 7. During counseling, what should the parents be told about the ways that this genetic alteration may be expressed as the child grows?
Select all that apply.
1. The child develops normally without any clinical manifestations associated with cystic fibrosis.
2. The patient is placed on a lung transplant list.
3. The patient receives bilateral mastectomies.
4. The patient is counseled about the increased risk of developing Alzheimer disease.
5. The child exhibits some mild signs and symptoms associated with cystic fibrosis.
Correct Answer: 1, 2, 5
The CFTR gene is a very large gene that is located on chromosome 7. Many different mutations of the CFTR gene have been reported to be associated with the disease. The area of the CFTR gene that controls mucous production can have more than 300 different gene alterations resulting in a variety of symptoms that range from no clinical manifestations at all to severe problems. The patient with severe cystic fibrosis may be placed on a lung transplant list. The child may experience a mild form of cystic fibrosis. The CFTR gene does not necessarily increase the patient's risk for developing breast cancer or Alzheimer disease.
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