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

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

doi:10.1136/jmedgenet-2017-104748

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-Francois 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, *}

* Auteur correspondant

1 Equipe GAD (LNC - U1231)

LNC - Lipides - Nutrition - Cancer [Dijon - U1231]

2 FHU TRANSLAD

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 (McGill University, Montréal)

9 Department of Reproduction and Growth, Neonatal Intensive Care Unit (University Hospital St Anna, Ferrara, Italy)

10 Department of Human Genetics, Radboud university medical center, Nijmegen 6500 HB, The Netherlands

11 WWU - Westfälische Wilhelms-Universität Münster

12 CNG - Centre National de Génotypage

13 Service de Génétique (CH Mulhouse)

14 The Wellcome Trust Sanger Institute [Cambridge]

15 Department of Human Genetics (McGill University Health Centre; Montréal)

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)

Abstract : 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.

Keywords : Bohring-Opitz like syndrome klhl7 whole exome sequencing

Type de document :

Article dans une revue

Journal of Medical Genetics, BMJ Publishing Group, 2017, 〈http://jmg.bmj.com/content/early/2017/10/26/jmedgenet-2017-104748〉. 〈10.1136/jmedgenet-2017-104748〉

Domaine :

Sciences du Vivant [q-bio] / Génétique

Liste complète des métadonnées

https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
Contributeur : Lnc - Université de Bourgogne <>
Soumis le : samedi 28 octobre 2017 - 10:53:55
Dernière modification le : vendredi 8 juin 2018 - 14:50:25

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

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

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