Article
Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.
Human mutation - 1 Oct 2017
Bernkopf Marie, Hunt David, Koelling Nils, Morgan Tim, Collins Amanda L, Fairhurst Joanna, Robertson Stephen P, Douglas Andrew G L, Goriely Anne
Abstract excerpt
We report the case of a male patient with Larsen syndrome found to be mosaic for a novel point mutation in FLNB in whom it was possible to provide evidence-based personalized counseling on transmission risk to future offspring. Using dideoxy sequencing, a low-level FLNB c.698A>G, encoding p.(Tyr233Cys) mutation was detected in buccal mucosa and fibroblast DNA. Mutation quantification was performed by deep...
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