60 percent of severe single-gene diseases after birth are caused by de novo mutations in the foetus (inherited from neither parent)1
De novo mutations in the foetus increase with paternal age (not related to maternal age), i.e. the older the father (>40 years old), the greater the risk of having a child with a dominant genetic disease caused by a de novo mutation(2).
Achondroplasia, hypochondroplasia, lethal skeletal dysplasias, brittle bone disease, CATSHL syndrome, Ehlers-Danlos syndrome.
Muenke syndrome, Crouzon syndrome, Antley Bixler syndrome, Apert syndrome, Pfeiffer syndrome, Jackson Weiss syndrome.
Noonan syndrome, Leopard syndrome, Cardiofaciocutaneous syndrome
Alagille syndrome, Charge syndrome, Cornelia de Lange syndrome, Costello syndrome, childhood epilepsy, intellectual disability, juvenile myelomonocytic leukaemia, Rett syndrome, Sotos syndrome, Tuberous sclerosis.
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