Neurofibromatosis type 1
- Recklinghausen's disease
- Type 1 neurofibromatosis
- Von Recklinghausen disease
Your QuestionMy 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.
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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:
- 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. Some research suggests that patients with NF1 whole gene deletions have an increased risk for developing cancerous tumors.
- JM Friedman. Neurofibromatosis 1. GeneReviews. May 3, 2012; http://www.ncbi.nlm.nih.gov/books/NBK1109/. Accessed 2/28/2014.
- Mensink KA et al.. Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature. J Med Genet. 2006; 43(2):http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2603036/?tool=pubmed. Accessed 4/15/2011.
- Mautner VF, Kluwe L, Friedrich RE et al.. Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions. J Med Genet. 2010; 47:http://www.ncbi.nlm.nih.gov/pubmed/20543202. Accessed 4/15/2011.