Parental origin of mutations in sporadic cases of Treacher Collins syndrome

Alessandra Splendore, Ethylin Wang Jabs, Têmis Maria Félix, Maria Rita Passos-Bueno

Research output: Contribution to journalArticlepeer-review

31 Scopus citations


In some autosomal dominant conditions, there is a correlation between new mutations and paternal age, with new mutations arising almost exclusively in the male germ line. To test this hypothesis in Treacher Collins syndrome, we analyzed 22 sporadic cases, determining the parental origin of the pathogenic mutation in 10 informative families. Mutations were found to be of both paternal and maternal origin, without a detectable parental age effect, confirming that a paternal age effect is not universal to all autosomal dominant disorders. A discussion on the parental origin of mutations and paternal age effect in other diseases is included.

Original languageEnglish (US)
Pages (from-to)718-722
Number of pages5
JournalEuropean Journal of Human Genetics
Issue number9
StatePublished - Sep 1 2003


  • Parental age
  • Sporadic mutation
  • TCOF1
  • Treacher Collins syndrome

ASJC Scopus subject areas

  • Genetics(clinical)


Dive into the research topics of 'Parental origin of mutations in sporadic cases of Treacher Collins syndrome'. Together they form a unique fingerprint.

Cite this