The effect of parental age on NF1 patients in Turkey
| Autor: | Sukriye Ayter, Mustafa Turan, O. F. Yılmaz, Sibel Ersoy-Evans, Ali Varan, Banu Anlar, Parisa Sharafi |
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| Přispěvatelé: | TOBB ETÜ, Tıp Fakültesi, Temel Tıp Bilimleri Bölümü, TOBB ETU, Faculty of Medicine, Department of Basic Medical Sciences, Parisa Sharafi [0000-0002-7400-4851], Sharafi, Parisa, Ayter, Şükriye |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Epidemiology Disease 030105 genetics & heredity Advanced maternal age Germline 03 medical and health sciences medicine Clinical severity Neurofibromatosis Family history neoplasms Genetics (clinical) business.industry Public Health Environmental and Occupational Health Spontaneous mutations medicine.disease eye diseases Human genetics nervous system diseases 030104 developmental biology Original Article business Advanced paternal age Neurofibromatosis type 1 |
| Zdroj: | Journal of Community Genetics. 9:227-232 |
| ISSN: | 1868-6001 1868-310X |
| Popis: | 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 |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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