Neurofibromatosis type 1 causes: Difference between revisions
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50% of cases of neurofibromatosis type 1 are familial (inherited) and the remainder arise from a de novo NF1 mutation.<ref name="pmid28230061" /><ref name="pmid18956796">{{cite journal |vauthors=McKeever K, Shepherd CW, Crawford H, Morrison PJ |title=An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age |journal=Ulster Med J |volume=77 |issue=3 |pages=160–3 |date=September 2008 |pmid=18956796 |pmc=2604471 |doi= |url=}}</ref> | 50% of cases of neurofibromatosis type 1 are familial (inherited) and the remainder arise from a de novo NF1 mutation.<ref name="pmid28230061" /><ref name="pmid18956796">{{cite journal |vauthors=McKeever K, Shepherd CW, Crawford H, Morrison PJ |title=An epidemiological, clinical and genetic survey of neurofibromatosis type 1 in children under sixteen years of age |journal=Ulster Med J |volume=77 |issue=3 |pages=160–3 |date=September 2008 |pmid=18956796 |pmc=2604471 |doi= |url=}}</ref> | ||
Our linkage studies showed that linked markers/haplotypes show the same result as careful clinical examination in familial cases of NF1, although contradictory results were obtained in two families where linkage data showed the NF1 risk haplotype in a healthy child of an affected parent. One explanation may be that the children were affected but were still at a presymptomatic stage. This would be exceptional, as all our affected cases (reported separately) had developed café au lait macules by the age of 5 years (96% of all patients), and similar observations have been made in earlier reports.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics">{{cite web |url=https://jmg.bmj.com/content/37/8/632 |title=Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics |format= |work= |accessdate=}}</ref><ref name="pmid3145091">{{cite journal |vauthors=Huson SM, Harper PS, Compston DA |title=Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales |journal=Brain |volume=111 ( Pt 6) |issue= |pages=1355–81 |date=December 1988 |pmid=3145091 |doi=10.1093/brain/111.6.1355 |url=}}</ref> Another explanation would be that even though the affected parents in both families fulfilled the NIH diagnostic criteria for NF1 (in the first family CFS and freckles, and in the second family neurofibromas and Lisch nodules), they both have another type of NF which is not linked to the ''NF1'' gene. A third explanation would be mosaicism in a parent with NF1 in whom some of the germ cells do not carry the ''NF1'' mutation. A fourth explanation would be non-penetrance of the''NF1'' mutation in the children in question, which has previously been reported in only three cases, a 50 year old woman who had an affected brother, son, and grandson,<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid8825042">{{cite journal |vauthors=Shen MH, Harper PS, Upadhyaya M |title=Molecular genetics of neurofibromatosis type 1 (NF1) |journal=J. Med. Genet. |volume=33 |issue=1 |pages=2–17 |date=January 1996 |pmid=8825042 |pmc=1051805 |doi=10.1136/jmg.33.1.2 |url=}}</ref> a 45 year old man with an affected mother and daughter,<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid8825042" /> and a subject with an affected father and two affected daughters.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /><ref name="pmid3105393">{{cite journal |vauthors=Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS |title=Genetic linkage analysis of neurofibromatosis |journal=Ann. N. Y. Acad. Sci. |volume=486 |issue= |pages=287–92 |date=1986 |pmid=3105393 |doi=10.1111/j.1749-6632.1986.tb48081.x |url=}}</ref> Although non-paternity is not probable, one should exclude it with other markers. The finding of possible non-penetrance in the two families in this series will be finally answered only after the families' ''NF1''mutation has been found. | |||
The mutation rate for the ''NF1'' gene, 4.37 ± 0.72 × 10-5,.<ref name="urlEpidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics" /> | |||
Causes of NF1 | |||
Chromosomal anomalies 1.6% | |||
Deletions of the entire NF1 gene 7.2% | |||
Deletion of several exons 15.5% | |||
Small deletions 22.4% | |||
Large insertions 1.2% | |||
Small insertions 11% | |||
Non-sense mutations 17.5% | |||
Missense mutations 11.8% | |||
intronic mutations affecting RNA splicing 10.2% | |||
3-UTR region mutations 1.6%<ref name="urlwww.orpha.net">{{cite web |url=https://www.orpha.net/data/patho/Pro/en/Neurofibromatosis1-FRenPro185.pdf |title=www.orpha.net |format= |work= |accessdate=}}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Moises Romo M.D.
Overview
Disease name] may be caused by [cause1], [cause2], or [cause3].
OR
Common causes of [disease] include [cause1], [cause2], and [cause3].
OR
The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].
OR
The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.
Causes
Life-threatening Causes
- Life-threatening causes include conditions which may result in death or permanent disability within 24 hours if left untreated. There are no life-threatening causes of disease name, however complications resulting from untreated disease name is common.
- Life-threatening causes of [symptom/manifestation] include [cause1], [cause2], and [cause3].
- [Cause] is a life-threatening cause of [disease].
Common Causes
Common causes of [disease name] may include:
- [Cause1]
- [Cause2]
- [Cause3]
OR
- [Disease name] is caused by an infection with [pathogen name].
- [Pathogen name] is caused by [pathogen name].
Less Common Causes
Less common causes of [disease name] include:
- [Cause1]
- [Cause2]
- [Cause3]
Genetic Causes
- [Disease name] is caused by a mutation in the [gene name] gene.
Causes by Organ System
| Cardiovascular | No underlying causes |
| Chemical/Poisoning | No underlying causes |
| Dental | No underlying causes |
| Dermatologic | No underlying causes |
| Drug Side Effect | No underlying causes |
| Ear Nose Throat | No underlying causes |
| Endocrine | No underlying causes |
| Environmental | No underlying causes |
| Gastroenterologic | No underlying causes |
| Genetic | No underlying causes |
| Hematologic | No underlying causes |
| Iatrogenic | No underlying causes |
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| Musculoskeletal/Orthopedic | No underlying causes |
| Neurologic | No underlying causes |
| Nutritional/Metabolic | No underlying causes |
| Obstetric/Gynecologic | No underlying causes |
| Oncologic | No underlying causes |
| Ophthalmologic | No underlying causes |
| Overdose/Toxicity | No underlying causes |
| Psychiatric | No underlying causes |
| Pulmonary | No underlying causes |
| Renal/Electrolyte | No underlying causes |
| Rheumatology/Immunology/Allergy | No underlying causes |
| Sexual | No underlying causes |
| Trauma | No underlying causes |
| Urologic | No underlying causes |
| Miscellaneous | No underlying causes |
Causes in Alphabetical Order
List the causes of the disease in alphabetical order:
- Cause 1
- Cause 2
- Cause 3
- Cause 4
- Cause 5
- Cause 6
- Cause 7
- Cause 8
- Cause 9
- Cause 10
_CausesOne of the potential etiologies for non-familial Neurofibromatosis Type 1 (NF1) is increasing parental age. We sought to evaluate recent evidence for parental age effects in NF1 in a large study. Individuals with NF1 and a comparison group from the U.S. general population born between 1994 and 2012 were ascertained from the NF1 Patient Registry Initiative (NPRI) and the National Center for Vital Statistics, respectively.[1]
Sporadic neurofibromatosis 1 (NF1) occurs in the absence of a family history of the disease and usually results from a new mutation in the germ cell of one of the parents, most commonly the father.[2][1]
50% of cases of neurofibromatosis type 1 are familial (inherited) and the remainder arise from a de novo NF1 mutation.[1][3]
Our linkage studies showed that linked markers/haplotypes show the same result as careful clinical examination in familial cases of NF1, although contradictory results were obtained in two families where linkage data showed the NF1 risk haplotype in a healthy child of an affected parent. One explanation may be that the children were affected but were still at a presymptomatic stage. This would be exceptional, as all our affected cases (reported separately) had developed café au lait macules by the age of 5 years (96% of all patients), and similar observations have been made in earlier reports.[4][5] Another explanation would be that even though the affected parents in both families fulfilled the NIH diagnostic criteria for NF1 (in the first family CFS and freckles, and in the second family neurofibromas and Lisch nodules), they both have another type of NF which is not linked to the NF1 gene. A third explanation would be mosaicism in a parent with NF1 in whom some of the germ cells do not carry the NF1 mutation. A fourth explanation would be non-penetrance of theNF1 mutation in the children in question, which has previously been reported in only three cases, a 50 year old woman who had an affected brother, son, and grandson,[4][6] a 45 year old man with an affected mother and daughter,[4][6] and a subject with an affected father and two affected daughters.[4][7] Although non-paternity is not probable, one should exclude it with other markers. The finding of possible non-penetrance in the two families in this series will be finally answered only after the families' NF1mutation has been found.
The mutation rate for the NF1 gene, 4.37 ± 0.72 × 10-5,.[4]
Causes of NF1
Chromosomal anomalies 1.6%
Deletions of the entire NF1 gene 7.2%
Deletion of several exons 15.5%
Small deletions 22.4%
Large insertions 1.2%
Small insertions 11%
Non-sense mutations 17.5%
Missense mutations 11.8%
intronic mutations affecting RNA splicing 10.2%
3-UTR region mutations 1.6%[8]
References
- ↑ 1.0 1.1 1.2 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.
- ↑ Bunin GR, Needle M, Riccardi VM (1997). "Paternal age and sporadic neurofibromatosis 1: a case-control study and consideration of the methodologic issues". Genet. Epidemiol. 14 (5): 507–16. doi:10.1002/(SICI)1098-2272(1997)14:5<507::AID-GEPI5>3.0.CO;2-Y. PMID 9358268.
- ↑ 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.
- ↑ 4.0 4.1 4.2 4.3 4.4 "Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland | Journal of Medical Genetics".
- ↑ Huson SM, Harper PS, Compston DA (December 1988). "Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales". Brain. 111 ( Pt 6): 1355–81. doi:10.1093/brain/111.6.1355. PMID 3145091.
- ↑ 6.0 6.1 Shen MH, Harper PS, Upadhyaya M (January 1996). "Molecular genetics of neurofibromatosis type 1 (NF1)". J. Med. Genet. 33 (1): 2–17. doi:10.1136/jmg.33.1.2. PMC 1051805. PMID 8825042.
- ↑ Spence MA, Parry DM, Bader JL, Marazita ML, Bocian M, Funderburk SJ, Mulvihill JJ, Sparkes RS (1986). "Genetic linkage analysis of neurofibromatosis". Ann. N. Y. Acad. Sci. 486: 287–92. doi:10.1111/j.1749-6632.1986.tb48081.x. PMID 3105393.
- ↑ "www.orpha.net" (PDF).