Multiple choice

The autosomal dominant disorder resulting from the mutation in NF1 gene on chromosome 17 is

  1. neurofibromatosis

  2. tuberous sclerosis complex

  3. multiple endocrine neoplasia

  4. retinoblastoma

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A Correct answer
Explanation

It is an autosomal dominant disease. It results from the mutation in NF1 gene on chromosome 17. It is associated with development of tumors of the nerve sheath. Other features of NF1 include café-au-lait spots, optic glioma, learning disability, and increased risk of malignancy or vascular disease.