期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 158A, 期 3, 页码 519-523出版社
WILEY
DOI: 10.1002/ajmg.a.34413
关键词
parental age; advanced paternal age; advanced maternal age; neurofibromatosis type 1; sporadic cases
资金
- Ministry of Health of the Czech Republic [MZ0FNM2005, 6503]
- Academy of Sciences of the Czech Republic [AVCR1ET 101210513, GAUK200072]
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?
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