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)
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)
Ange-Line Bruel
Connectez-vous pour contacter l'auteur
- Fonction : Auteur correspondant
- PersonId : 1018295
Connectez-vous pour contacter l'auteur
Maggie Williams
- Fonction : Auteur
- PersonId : 899279
Axel Bohring
- Fonction : Auteur
- PersonId : 906358
Anne Boland
- Fonction : Auteur
- PersonId : 757786
- ORCID : 0000-0001-8789-5676
Robert Olaso
- Fonction : Auteur
- PersonId : 774936
- ORCID : 0000-0001-7631-9657
Jean-Baptiste Rivière
- Fonction : Auteur
- PersonId : 994656
Laurence Faivre
- Fonction : Auteur
- PersonId : 856301
Christel Thauvin-Robinet
- Fonction : Auteur
- PersonId : 994672
Julien Thevenon
Connectez-vous pour contacter l'auteur
- Fonction : Auteur correspondant
- PersonId : 1021880
Connectez-vous pour contacter l'auteur
Résumé
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.