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Statements

Subject Item
n2:RIV%2F00023001%3A_____%2F12%3A00056290%21RIV13-MZ0-00023001
rdf:type
n11:Vysledek skos:Concept
rdfs:seeAlso
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.34413/abstract?systemMessage=Wiley+Online+Library+will+be+disrupted+on+9+June+from+10%3A00-12%3A00+BST+%2805%3A00-07%3A00+EDT%29+for+essential+maintenance
dcterms:description
Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,0001/5,000 in various population-based studies). About 3050% of cases are sporadic, resulting from a new mutation. NF1 is fully penetrant by mid-childhood, stigmata, and medical problems (neurological, dermatological, endocrine, ophthalmological, oncological) are highly variable. Advanced paternal age (APA) has been known to increase the risk of new germline mutations that contribute to the presence of a variety of genetic diseases in the human population. The trend in developed countries has been toward higher parental age due to various reasons. In a cross-sectional study, in two university hospital centers, data on parental age of 103 children (41 female) born between 1976 and 2005 with sporadic NF1 were analyzed. Parental age at birth was compared with the Czech general population matched to birth year. The mean NF1 sporadic case paternal age at birth was 32.0 years (95% CI 30.733.3 years) compared with 28.8 years (95% CI 28.629.1 years) in the general population (P?<?0.001). The mean maternal age at birth was 27.4 years (95% CI 26.328.5 years) compared with 25.8 years (95% CI 25.526.0 years) in the general population (P?<?0.05). The case-control difference in the father's age was higher than it was for the mother's age. Sporadic NF1 cases accounted for 35.6% of our entire NF1 cohort. We confirmed an association of advanced parental and particularly paternal age with the occurrence of sporadic NF1. Von Recklinghausen neurofibromatosis (NF1) is an autosomal dominant disorder with a prevalence about 1/3,000 (1/2,0001/5,000 in various population-based studies). About 3050% of cases are sporadic, resulting from a new mutation. NF1 is fully penetrant by mid-childhood, stigmata, and medical problems (neurological, dermatological, endocrine, ophthalmological, oncological) are highly variable. Advanced paternal age (APA) has been known to increase the risk of new germline mutations that contribute to the presence of a variety of genetic diseases in the human population. The trend in developed countries has been toward higher parental age due to various reasons. In a cross-sectional study, in two university hospital centers, data on parental age of 103 children (41 female) born between 1976 and 2005 with sporadic NF1 were analyzed. Parental age at birth was compared with the Czech general population matched to birth year. The mean NF1 sporadic case paternal age at birth was 32.0 years (95% CI 30.733.3 years) compared with 28.8 years (95% CI 28.629.1 years) in the general population (P?<?0.001). The mean maternal age at birth was 27.4 years (95% CI 26.328.5 years) compared with 25.8 years (95% CI 25.526.0 years) in the general population (P?<?0.05). The case-control difference in the father's age was higher than it was for the mother's age. Sporadic NF1 cases accounted for 35.6% of our entire NF1 cohort. We confirmed an association of advanced parental and particularly paternal age with the occurrence of sporadic NF1.
dcterms:title
The importance of advanced parental age in the origin of neurofibromatosis type 1 The importance of advanced parental age in the origin of neurofibromatosis type 1
skos:prefLabel
The importance of advanced parental age in the origin of neurofibromatosis type 1 The importance of advanced parental age in the origin of neurofibromatosis type 1
skos:notation
RIV/00023001:_____/12:00056290!RIV13-MZ0-00023001
n11:predkladatel
n12:ico%3A00023001
n3:aktivita
n7:V n7:Z n7:P n7:I
n3:aktivity
I, P(1ET101210513), V, Z(MZ0FNM2005)
n3:cisloPeriodika
3S
n3:dodaniDat
n6:2013
n3:domaciTvurceVysledku
n16:6873472
n3:druhVysledku
n15:J
n3:duvernostUdaju
n8:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
140868
n3:idVysledku
RIV/00023001:_____/12:00056290
n3:jazykVysledku
n21:eng
n3:klicovaSlova
sporadic cases; neurofibromatosis type 1; advanced maternal age; advanced paternal age; parental age
n3:klicoveSlovo
n4:advanced%20paternal%20age n4:advanced%20maternal%20age n4:neurofibromatosis%20type%201 n4:sporadic%20cases n4:parental%20age
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[F8289CB37DD6]
n3:nazevZdroje
American journal of medical genetics. Part A
n3:obor
n20:FG
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
12
n3:projekt
n5:1ET101210513
n3:rokUplatneniVysledku
n6:2012
n3:tvurceVysledku
Zemkova, Daniela Marikova, Tatiana Bendova, Sarka Snajderova, Marta Petrakova, Alena Riccardi, Vincent M Mardesic, Tonko Kaluzova, Marie Lánská, Věra Zapletalova, Jiřina Petrak, Borivo Havlovicova, Marketa
n3:wos
000300498500007
n3:zamer
n19:MZ0FNM2005
s:issn
1552-4825
s:numberOfPages
5
n18:doi
10.1002/ajmg.a.34413