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Am J Med Genet A. 2012 Sep;158A(9):2290-1. doi: 10.1002/ajmg.a.35496. Epub 2012 Jul 27.

Two independent de novo mutations as a cause for neurofibromatosis type 1 and Noonan syndrome in a single family.

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1
Service de Biochimie et de Génétique Moléculaire, Hôpital Cochin AP-HP, Paris, UMR745 INSERM, Université Paris Descartes, Sorbonne Paris Cité, Faculté des Sciences Pharmaceutiques et Biologiques, Paris, France. eric.pasmant@gmail.com

Abstract

Here we report on a family with two siblings born to unrelated healthy parents, one with neurofibromatosis type 1 (NF1) and the other with Noonan syndrome (NS). Molecular investigations performed on the NF1 and PTPN11 genes showed two independent de novo mutations as a cause for NF1 in the NF1 proband and NS in her affected brother. Both de novo mutations were potentially of paternal origin, given the advanced paternal age at the time of conception.

PMID:
22847776
DOI:
10.1002/ajmg.a.35496
[Indexed for MEDLINE]
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