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Title: The effect of parental age on NF1 patients in Turkey
Authors: Ersoy, Evans Sibel
Sharafi, Parisa
Anlar, Banu
Varan, Ali
Yılmaz, Ömer Faruk
Turan, Mustafa
Ayter, Şükriye
Keywords: Neurofibromatosis type 1
Advanced paternal age
Advanced maternal age
Spontaneous mutations
Issue Date: 1-Jul-2018
Publisher: Springer Verlag
Source: Sharafi, P., Anlar, B., Ersoy-Evans, S., Varan, A., Yılmaz, O. F., Turan, M., & Ayter, S. (2018). The effect of parental age on NF1 patients in Turkey. Journal of community genetics, 9(3), 227-232.
Abstract: Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, and its clinical presentations are highly variable. NF1 is caused by mutations in the NF1 gene, and 50% of NF1 cases are sporadic, which occur in the absence of a family history of the disease and usually result from a new mutation in the germline of a parent. Advanced paternal age may increase the risk for germinal NF1 mutations; however, some dominant conditions, including neurofibromatosis, have shown a lesser association with paternal age, although there are conflicting reports in the literature. We investigated the effects of paternal and maternal age in 241 NF1 patients (121 sporadic and 120 familial cases) who were seen in Hacettepe hospital, a reference center for genetic diseases in Turkey. For statistical analysis, Spearman’s and Chi-square tests were used. In this study, we evaluated paternal and maternal age at birth in sporadic and familial cases of NF1. We also compared the effect of parental age on the appearance and coexistence of various NF1 symptoms. There were no significant statistical differences between paternal age and coexistence of the NF1 symptoms. However, a slightly negative correlation was observed between paternal age and the coexistence of NF1 symptoms in familial cases (p < 0.05). We did not find strong evidence for the effect of parental age on the clinical severity of NF1.
ISSN: 1868310X
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Temel Tıp Bilimleri Bölümü / Department of Basic Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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