title: Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
abstract: 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.
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, CEP 05508-900, Cidade Universitaria, São Paulo, SP, Brazil.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Splendore
authors.forename: Ethylin Wang
authors.initials: EW
authors.lastname: Jabs
authors.forename: Têmis Maria
authors.initials: TM
authors.lastname: Félix
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Passos-Bueno
mesh_terms: D004586:Electrophoresis; D005799:Genes, Dominant / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010290:Parents; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA
chemical_list: D005819:Genetic Markers; D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human