Expanding the clinical spectrum of recessive truncating mutations ofKLHL7to a Bohring-Opitz-like phenotype

Author:

Bruel Ange-Line,Bigoni Stefania,Kennedy Joanna,Whiteford Margo,Buxton Chris,Parmeggiani Giulia,Wherlock Matt,Woodward Geoff,Greenslade Mark,Williams Maggie,St-Onge Judith,Ferlini Alessandra,Garani Giampaolo,Ballardini Elisa,van Bon Bregje W,Acuna-Hidalgo Rocio,Bohring Axel,Deleuze Jean-François,Boland Anne,Meyer Vincent,Olaso Robert,Ginglinger Emmanuelle,Study DDD,Rivière Jean-Baptiste,Brunner Han G,Hoischen Alexander,Newbury-Ecob Ruth,Faivre Laurence,Thauvin-Robinet Christel,Thevenon Julien

Funder

Concil of Burgundy

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: review of the most prevalent molecular and phenotypic features of the syndrome;Dangiolo;Am J Med Genet A,2015

2. De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome;Hoischen;Nat Genet,2011

3. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome;Bainbridge;Genome Med,2013

4. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome;Hori;Am J Med Genet A,2016

5. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies;Dinwiddie;BMC Med Genomics,2013

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