The effect of parental age on the presence of de novo mutations – Lessons from neurofibromatosis type I

Molecular Genetics and Genomic Medicine

Volumn 4, Issue 4, 2016, Pages 480-486

  Dubov, Tom ^a   Toledano Alhadef, Hagit ^a,b   Bokstein, Felix ^a,b   Constantini, Shlomi ^a,b   Ben Shachar, Shay ^a,b  

^a TEL AVIV UNIVERSITY   (Israel)

^b TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

Author keywords

Advanced paternal age; Autosomal dominant; De novo; Sporadic neurofibromatosis type 1

Indexed keywords

EID: 85040633525     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.222     Document Type: Article

References (44)

1. Bunin G. R., Needle M., and Riccardi V. M. 1997. Paternal age and sporadic neurofibromatosis 1: A case‐control study and consideration of the methodologic issues. Genet. Epidemiol. 14:507–516.
2. Carothers A. D., McAllion S. J., and Paterson C. R. 1986. Risk of dominant mutation in older fathers: evidence from osteogenesis imperfecta. J. Med. Genet. 23:227–230.
3. Clementi M., Barbujani G., Turolla L., and Tenconi R. 1990. Neurofibromatosis‐1: a maximum likelihood estimation of mutation rate. Hum. Genet. 84:116–118.
4. Crow J. F. 2000. The origins, patterns and implications of human spontaneous mutation. Nat. Rev. Genet. 1:40–47.
5. DeBella K., Szudek J., and Friedman J. M. 2000. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 105(3 Pt 1):608–614.
6. Durkin M. S., Maenner M. J., Newschaffer C. J., Lee L. C., Cunniff C. M., Daniels J. L., et al. 2008. Advanced parental age and the risk of autism spectrum disorder. Am. J. Epidemiol. 168:1268–1276.
7. Evans D. G., Howard E., Giblin C., Clancy T., Spencer H., Huson S. M., et al. 2010. Birth incidence and prevalence of tumor‐prone syndromes: estimates from a UK family genetic register service. Am. J. Med. Genet. A 152a:327–332.
8. Ferner R. E., Huson S. M., Thomas N., Moss C., Willshaw H., Evans D. G., et al. 2007. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J. Med. Genet. 44:81–88.
9. Friedman J. M. 1981. Genetic disease in the offspring of older fathers. Obstet. Gynecol. 57:745–749.
10. Glaser R. L., and Jabs E. W. 2004. Dear old dad. Sci Aging Knowledge Environ 2004:re1.
11. Glaser R. L., Jiang W., Boyadjiev S. A., Tran A. K., Zachary A. A., Van Maldergem L., et al. 2000. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am. J. Hum. Genet. 66:768–777.
12. Goriely A., and Wilkie A. O. 2010. Missing heritability: paternal age effect mutations and selfish spermatogonia. Nat. Rev. Genet. 11:589.
13. Goriely A., and Wilkie A. O. 2012. Paternal age effect mutations and selfish spermatogonial selection: causes and consequences for human disease. Am. J. Hum. Genet. 90:175–200.
14. Goriely A., McVean G. A., Rojmyr M., Ingemarsson B., and Wilkie A. O. 2003. Evidence for selective advantage of pathogenic FGFR2 mutations in the male germ line. Science 301:643–646.
15. Goriely A., McVean G. A., van Pelt A. M., O'Rourke A. W., Wall S. A., de Rooij D. G., et al. 2005. Gain‐of‐function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA. 102:6051–6056.
16. Gottfried O. N., Viskochil D. H., and Couldwell W. T. 2010. Neurofibromatosis Type 1 and tumorigenesis: molecular mechanisms and therapeutic implications. Neurosurg. Focus 28:E8.
17. Hook E. B., and Chambers G. M. 1977. Estimated rates of Down syndrome in live births by one year maternal age intervals for mothers aged 20–49 in a New York State study‐implications of the risk figures for genetic counseling and cost‐benefit analysis of prenatal diagnosis programs. Birth Defects Orig Artic Ser. 13:123–141.
18. Hook E. B., and Lindsjo A. 1978. Down syndrome in live births by single year maternal age interval in a Swedish study: comparison with results from a New York State study. Am. J. Hum. Genet. 30:19–27.
19. Hultman C. M., Sandin S., Levine S. Z., Lichtenstein P., and Reichenberg A. 2011. Advancing paternal age and risk of autism: new evidence from a population‐based study and a meta‐analysis of epidemiological studies. Mol. Psychiatry 16:1203–1212.
20. Huson S. M., Compston D. A., Clark P., and Harper P. S. 1989. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J. Med. Genet. 26:704–711.
21. Jadayel D., Fain P., Upadhyaya M., Ponder M. A., Huson S. M., Carey J., et al. 1990. Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature 343:558–559.
22. Kuhnert B., and Nieschlag E. 2004. Reproductive functions of the ageing male. Hum Reprod Update. 10:327–339.
23. de La Rochebrochard E., and Thonneau P. 2003. Paternal age >or=40 years: an important risk factor for infertility. Am. J. Obstet. Gynecol. 189:901–905.
24. Liu Q., Zoellner N., Gutmann D. H., and Johnson K. J. 2015. Parental age and neurofibromatosis Type 1: a report from the NF1 patient registry initiative. Fam. Cancer 14:317–324.
25. Martin G. A., Viskochil D., Bollag G., McCabe P. C., Crosier W. J., Haubruck H., et al. 1990. The GAP‐related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 63:843–849.
26. Murdoch J. L., Walker B. A., and McKusick V. A. 1972. Parental age effects on the occurrence of new mutations for the Marfan syndrome. Ann. Hum. Genet. 35:331–336.
27. North K. 1993. Neurofibromatosis type 1: review of the first 200 patients in an Australian clinic. J. Child Neurol. 8:395–402.
28. Penrose L. S. 1957. Parental age in acondroplasia and mongolism. Am. J. Hum. Genet. 9:167–169.
29. Poyhonen M., Kytola S., and Leisti J. 2000. Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland. J. Med. Genet. 37:632–636.
30. Rasmussen S. A., and Friedman J. M. 2000. NF1 gene and neurofibromatosis 1. Am. J. Epidemiol. 151:33–40.
31. Riccardi V. M., Dobson C. E. II, Chakraborty R., and Bontke C. 1984. The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations. Am. J. Med. Genet. 18:169–176.
32. Risch N., Reich E. W., Wishnick M. M., and McCarthy J. G. 1987. Spontaneous mutation and parental age in humans. Am. J. Hum. Genet. 41:218–248.
33. Samuelsson B., and Akesson H. O. 1989. Neurofibromatosis in Gothenburg. Sweden. IV. Genetic analyses. Neurofibromatosis. 2:107–115.
34. Sergeyev A. S. 1975. On the mutation rate of neurofibromatosis. Humangenetik. 28:129–138.
35. Snajderova M., Riccardi V. M., Petrak B., Zemkova D., Zapletalova J., Mardesic T., et al. 2012. The importance of advanced parental age in the origin of neurofibromatosis type 1. Am. J. Med. Genet. A 158a:519–523.
36. Stephens K., Kayes L., Riccardi V. M., Rising M., Sybert V. P., and Pagon R. A. 1992. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum. Genet. 88:279–282.
37. Takano T., Kawashima T., Yamanouchi Y., Kitayama K., Baba T., Ueno K., et al. 1992. Genetics of neurofibromatosis 1 in Japan: mutation rate and paternal age effect. Hum. Genet. 89:281–286.
38. Thompson J. N. Jr, Schaefer G. B., Conley M. C., and Mascie-Taylor C. G. 1986. Achondroplasia and parental age. N. Engl. J. Med. 20:521–522.
39. Toriello H. V., and Meck J. M. 2008. Statement on guidance for genetic counseling in advanced paternal age. Genet. Med. 10:457–460.
40. Upadhyaya M., Huson S. M., Davies M., Thomas N., Chuzhanova N., Giovannini S., et al. 2007. An absence of cutaneous neurofibromas associated with a 3‐bp inframe deletion in exon 17 of the NF1 gene (c.2970‐2972 delAAT): evidence of a clinically significant NF1 genotype‐phenotype correlation. Am. J. Hum. Genet. 80:140–151.
41. Warren A. C., Chakravarti A., Wong C., Slaugenhaupt S. A., Halloran S. L., Watkins P. C., et al. 1987. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science 237:652–654.
42. Wilkin D. J., Szabo J. K., Cameron R., Henderson S., Bellus G. A., Mack M. L., et al. 1998. Mutations in fibroblast growth‐factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome. Am. J. Hum. Genet. 63:711–716.
43. Winer B., Brown D. R., and Michels K. M. 1991. Statistical principles in experimental design. McGraw Hih, New York.
44. Yoon S. R., Choi S. K., Eboreime J., Gelb B. D., Calabrese P., and Arnheim N. 2013. Age‐dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection. Am. J. Hum. Genet. 92:917–926.