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Journal 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

Abstract:

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 personalised counselling 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 Next-Generation sequencing (NGS) of DNA extracted from three so...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1002/humu.23281

Authors


Publisher:
Wiley
Journal:
Human Mutation More from this journal
Volume:
38
Issue:
10
Pages:
1360-1364
Publication date:
2017-07-06
Acceptance date:
2017-06-11
DOI:
EISSN:
1098-1004
ISSN:
1059-7794
Keywords:
Pubs id:
pubs:700152
UUID:
uuid:8c53243d-e457-46ca-a69d-bab9a4033b7b
Local pid:
pubs:700152
Source identifiers:
700152
Deposit date:
2017-06-12

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