Older paternal age and fresh gene mutation: data on additional disorders

J Pediatr. 1975 Jan;86(1):84-8. doi: 10.1016/s0022-3476(75)80709-8.


Older paternal age has previously been documented as a factor in sporadic fresh mutational cases of several autosomal dominant disorders. In this collaborative study, an older mean paternal age has been documented in sporadic cases of at least five additional dominantly inheritable disorders; the basal cell nevus syndrome, the Waardenburg syndrome, the Crouzon syndrome, the oculo-dental-digital sysdrome, and the Treacher-Collins syndrome. It was also found to be a factor in acrodysostosis and progeria, suggesting a fresh mutant gene etiology for these two conditions in which virtually all cases have been sporadic and the mode of genetic etiology has been unknown.

Publication types

  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Age Factors*
  • Bone Cysts / genetics
  • Brain Diseases / genetics
  • Carcinoma, Basal Cell / genetics
  • Cleidocranial Dysplasia / genetics
  • Congenital Abnormalities / genetics
  • Craniofacial Dysostosis / genetics
  • Female
  • Genes*
  • Genetic Diseases, Inborn / genetics*
  • Gigantism / genetics
  • Hallermann's Syndrome / genetics
  • Humans
  • Iris / abnormalities
  • Jaw Diseases / genetics
  • Male
  • Mandibulofacial Dysostosis / genetics
  • Maternal Age
  • Mutation*
  • Orofaciodigital Syndromes / complications
  • Parents*
  • Pregnancy
  • Progeria / genetics
  • Ribs / abnormalities
  • Statistics as Topic
  • Syndrome
  • Tooth Abnormalities / genetics
  • Waardenburg Syndrome / genetics