Neurofibromatosis type 1 risk factors
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
The biggest risk factor for acquiring neurofibromatosis type 1 is a family history of this disorder. Advanced paternal age increases the risk of an NF1 de novo mutation. There is no identified modifiable risk factor for acquiring neurofibromatosis type 1.
Risk Factors
Risk factors associated with the acquisition of neurofibromatosis type 1
- Since neurofibromatosis type 1 is an inherited or de novo mutation disease, there is hardly any modifiable risk factors.[1]
- The biggest risk factor for neurofibromatosis type 1 is a family history of the disorder.[2][3]
- Children of individuals with neurofibromatosis type 1 have 50% of inheriting the mutation in NF1 gene.[4]
- Neurofibromatosis type 1 is inherited in an autosomal dominant manner, with 100% penetrance.[5]
- Advanced paternal age increases the risk of an NF1 de novo mutation.[3]
- Parents with mosaicism of neurofibromatosis type 1 have less than 50% of chance to transmit the condition to its child, but if transmitted, the mutation will be present in every cell of the newborn, presenting a severe variant.[6]
Risk factors associated in neurofibromatosis type 1
- The risk of inheriting schwannomatosis from an affected parent with neurofibromatosis type 1 is approximately 15%.[2]
- The cumulative risk to develope any kind of malignancy during life in patients with neurofibromatosis type 1 is approximately 60%, especially brain tumors.[7]
- The risk of developing a nerve sheath tumor is increased more than 1000-fold times than the general population.[7]
- Serum level of vitamin D inversely correlates with the number of neurofibromas.[8]
- Neurofibromatosis type 1 patients have higher risk of developing depression and social anxiety.[9]
- Associated risk factors for death in patients with neurofibromatosis type 1 are the presence of subcutaneous neurofibromas, the absence of cutaneous neurofibromas, and facial asymmetry.[10]
References
- ↑ “Neurofibromatosis Risk Factors | Moffitt”.
- ↑ 2.0 2.1 “Neurofibromatosis – Symptoms and causes – Mayo Clinic”.
- ↑ 3.0 3.1 Gutmann DH, Ferner RE, Listernick RH, Korf BR, Wolters PL, Johnson KJ (February 2017). “Neurofibromatosis type 1”. Nat Rev Dis Primers. 3: 17004. doi:10.1038/nrdp.2017.4. PMID 28230061.
- ↑ McKeever K, Shepherd CW, Crawford H, Morrison PJ (September 2008). “An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age”. Ulster Med J. 77 (3): 160–3. PMC 2604471. PMID 18956796.
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Friedman JM. PMID 20301288. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Friedman JM. PMID 20301288. Vancouver style error: initials (help); Missing or empty
|title=(help) - ↑ 7.0 7.1 Drouet A, Wolkenstein P, Lefaucheur JP, Pinson S, Combemale P, Gherardi RK, Brugières P, Salama J, Ehre P, Decq P, Créange A (September 2004). “Neurofibromatosis 1-associated neuropathies: a reappraisal”. Brain. 127 (Pt 9): 1993–2009. doi:10.1093/brain/awh234. PMID 15289270.
- ↑ Lammert M, Friedman JM, Roth HJ, Friedrich RE, Kluwe L, Atkins D, Schooler T, Mautner VF (October 2006). “Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1”. J. Med. Genet. 43 (10): 810–3. doi:10.1136/jmg.2006.041095. PMC 2563168. PMID 16571643.
- ↑ Cimino PJ, Gutmann DH (2018). “Neurofibromatosis type 1”. Handb Clin Neurol. 148: 799–811. doi:10.1016/B978-0-444-64076-5.00051-X. PMID 29478615.
- ↑ Khosrotehrani K, Bastuji-Garin S, Zeller J, Revuz J, Wolkenstein P (February 2003). “Clinical risk factors for mortality in patients with neurofibromatosis 1: a cohort study of 378 patients”. Arch Dermatol. 139 (2): 187–91. doi:10.1001/archderm.139.2.187. PMID 12588224.
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