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Genetic and Rare Diseases Information Center (GARD)

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Neurofibromatosis type 1

Other Names for this Disease
  • NF1
  • Recklinghausen's disease
  • Type 1 neurofibromatosis
  • Von Recklinghausen disease
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Your Question

My son was diagnosed with NF1. At birth, doctors noticed his neck was shorter and his eyes and ears where tilted a bit. They ran some test and discovered that he is missing the whole gene instead of it just being mutated. His genetic doctor said he's never really seen this before and can't really tell me much about how it's going to affect my son. I was just wondering if you had any information on this gene being completely missing.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How often is neurofibromatosis type 1 caused by a deletion of the entire NF1 gene?

Mutations in the NF1 gene cause neurofibromatosis type 1. About 95% of individuals with this condition have a single mutation that disrupts the normal function of the NF1 gene. Approximately 5% of patients with NF1 have deletions of the entire NF1 gene.[1][2] The first patient with a large NF1 gene deletion was described in 1992. Since this report, a total of 166 patients with large deletions of the NF1 gene region have been identified and described in the medical literature.[3]
Last updated: 6/6/2012

What signs and symptoms have been described in individuals with deletion of the entire NF1 gene?

In general, symptoms are more severe when a person has a deletion of the entire NF1 gene than when the gene is altered by a mutation. 

Individuals, whose entire NF1 gene is deleted, usually have the following symptoms:[1]

  • Early (before adolescence) appearance of cutaneous neurofibromas (nerve tissue tumors of the skin)
  • More severe cognitive abnormalities than average (most people with NF1 who only have a mutation in the NF1 gene have normal intelligence)
  • Short stature
  • Large hands and feet
  • Distinct facial features, such as a prominent forehead, low set ears, and droopy eyelids (ptosis)

Other features that have been reported include Mitral valve prolapse, loose joints, or soft skin on the palms.[2][3] Some research suggests that patients with NF1 whole gene deletions have an increased risk for developing cancerous tumors.[2]

Last updated: 6/8/2012