Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

doi:10.1136/jmedgenet-2017-104748

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Article

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Journal of medical genetics - 1 Dec 2017

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

Abstract excerpt

BACKGROUND: Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations ofASXL1. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity. OBJECTIVES: To expand the phenotypical spectrum of autosomal recessive variants of KLHL7, reported...

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Identifiers

PMID: 29074562
DOI: 10.1136/jmedgenet-2017-104748

Genes

KLHL7

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