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What is A 31-year-old man has an infertility work-up. He has aspermia. He also has chronic diarrhea with elevated quantitative stool fat. He has had recurrent, severe respiratory tract infections since early childhood. As a neonate, he had bowel obstruction from meconium ileus. He is most likely to have an abnormality involving mutation in which of the following genes? and explain in detail?
Cystic fibrosis can be accompanied by agenesis of the vas deferens, a common finding that leads to infertility. With good medical care, patients with cystic fibrosis are living longer, and childbearing becomes an issue. Disorders of fibroblast growth factor receptor (FGFR) can include dwarfism. Glucose-6-phosphate dehydrogenase (G6PD) deficiency results in hemolysis on exposure to oxidants such as antimalarial drugs (e.g., primaquine). The HFE gene is abnormal in hereditary hemochromatosis; however, the patient is young for the onset of this disease. NF1 (neurofibromatosis) is associated with the appearance of various neoplasms, including neurofibromas, pheochromocytomas, and gliomas. p53 is a tumor suppressor gene, and loss of both alleles can promote the appearance of various malignancies, mainly carcinomas.