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The effect of parental age on NF1 patients in Turkey

Show simple item record Ersoy-Evans, Sibel Sharafi, Parisa Anlar, Banu Varan, Ali Yılmaz, Ömer Faruk Turan, Mustafa Ayter, Şükriye 2019-03-21T06:56:58Z 2019-03-21T06:56:58Z 2018-07-01
dc.identifier.citation 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. en_US
dc.identifier.issn 1868310X
dc.identifier.issn 1868310X
dc.description.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. en_US
dc.language.iso eng en_US
dc.publisher Springer Verlag en_US
dc.relation.isversionof 10.1007/s12687-017-0346-0 en_US
dc.rights info:eu-repo/semantics/closedAccess en_US
dc.subject Neurofibromatosis type 1 en_US
dc.subject Advanced paternal age en_US
dc.subject Advanced maternal age en_US
dc.subject Spontaneous mutations en_US
dc.title The effect of parental age on NF1 patients in Turkey en_US
dc.type article en_US
dc.relation.journal Journal of Community Genetics
dc.contributor.department TOBB ETÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü en_US
dc.contributor.department TOBB ETU, Faculty of Medicine, Department of Basic Medical Sciences en_US
dc.identifier.volume 9 en_US
dc.identifier.issue 3 en_US
dc.identifier.startpage 227 en_US
dc.identifier.endpage 232 en_US
dc.contributor.orcid Parisa Sharafi [0000-0002-7400-4851]
dc.identifier.wos WOS:000435437400005
dc.identifier.scopus 2-s2.0-85034096433
dc.contributor.tobbetuauthor Sharafi, Parisa
dc.contributor.tobbetuauthor Ayter, Şükriye en_US
dc.identifier.PubMedID PMID:29143198
dc.relation.publicationcategory Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı

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