Journal of Community Genetics

, Volume 9, Issue 3, pp 227–232 | Cite as

The effect of parental age on NF1 patients in Turkey

  • P. Sharafi
  • B. Anlar
  • S. Ersoy-Evans
  • A. Varan
  • O. F. Yılmaz
  • M. Turan
  • S. Ayter
Original Article


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.


Neurofibromatosis type 1 Advanced paternal age Advanced maternal age Spontaneous mutations 


Funding information

This study was supported by the Hacettepe University Scientific Research and Development Office (Project No. H.U.BAB. 010 T02 102).

Compliance with ethical standards

Ethical statement

This study was supported by the Hacettepe University Scientific Research and Development Office (Project No. H.U.BAB. 010 T02 102).

Conflict of interest

The authors declare that they have no conflict of interest.

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients for being included in the study.

Informed consent was obtained from all individual participants included in the study.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2017

Authors and Affiliations

  • P. Sharafi
    • 1
  • B. Anlar
    • 2
  • S. Ersoy-Evans
    • 3
  • A. Varan
    • 4
  • O. F. Yılmaz
    • 5
  • M. Turan
    • 5
  • S. Ayter
    • 1
  1. 1.Department of Medical BiologyTOBB University of Economics and Technology, Faculty of MedicineAnkaraTurkey
  2. 2.Department of Pediatrics, Pediatric NeurologyHacettepe University, School of MedicineAnkaraTurkey
  3. 3.Department of DermatologyHacettepe University, School of MedicineAnkaraTurkey
  4. 4.Department of Pediatrics, Pediatric OncologyHacettepe University, School of MedicineAnkaraTurkey
  5. 5.Faculty of MedicineTOBB University of Economics and TechnologyAnkaraTurkey

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