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

Ange-Line Bruel (1, 2) , Stefania Bigoni (3, 4) , Joanna Kennedy (5) , Margo Whiteford (6) , Chris Buxton (7) , Giulia Parmeggiani (3, 4) , Matt Wherlock (7) , Geoff Woodward (7) , Mark Greenslade (7) , Maggie Williams (7) , Judith St-Onge (8) , Alessandra Ferlini (3, 4) , Giampaolo Garani (9) , Elisa Ballardini (9) , Bregje W van Bon (10) , Rocio Acuna-Hidalgo (10) , Axel Bohring (11) , Jean-François Deleuze (12) , Anne Boland (12) , Vincent Meyer (12) , Robert Olaso (12) , Emmanuelle Ginglinger (13) , Ddd Study (14) , Jean-Baptiste Rivière (15) , Han G Brunner (16) , Alexander Hoischen (17) , Ruth Newbury-Ecob (18) , Laurence Faivre (1, 2) , Christel Thauvin-Robinet (2, 1) , Julien Thevenon (2, 1, 19)

1 Equipe GAD (LNC - U1231)
2 FHU TRANSLAD (CHU de Dijon)
3 Department of Reproduction and Growth, UOL of Medical Genetics (University Hospital St Anna, Ferrara)
4 Department of Medical Science, UOL of Medical Genetics (University Hospital St Anna, Ferrara)
5 clinical Genetics Department (University Hospitals Bristol)
6 Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow)
7 Bristol Genetics Laboratory (Southmead Hospital)
8 Department of Human Genetics [Montréal]
9 Department of Reproduction and Growth, Neonatal Intensive Care Unit (University Hospital St Anna, Ferrara, Italy)
10 Radboud University Medical Center [Nijmegen]
11 WWU - Westfälische Wilhelms-Universität Münster = University of Münster
12 CNG - Centre National de Génotypage
13 Service de Génétique (CH Mulhouse)
14 The Wellcome Trust Sanger Institute [Cambridge]
15 MUHC - McGill University Health Center [Montreal]
16 Department of Genetics
17 849 Department of Human Genetics
18 University Hospitals Bristol
19 Centre de Génétique, Hôpital Couple Enfant (CHU de Grenoble Alpes)

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.

Mots clés: Bohring-Opitz like syndrome; klhl7; whole exome sequencing

Domaines: Sciences du Vivant [q-bio]; Génétique

Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, et al.. Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype. Journal of Medical Genetics, 2017, 54 (12), pp.830-835. ⟨10.1136/jmedgenet-2017-104748⟩. ⟨hal-01625676⟩