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-François 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

Article dans une revue

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, *}

* Auteur correspondant

1 Equipe GAD (LNC - U1231)

LNC - Lipides - Nutrition - Cancer [Dijon - 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

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)

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

Domaine :

Sciences du Vivant [q-bio] / Génétique

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https://hal-univ-bourgogne.archives-ouvertes.fr/hal-01625676
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Soumis le : samedi 28 octobre 2017 - 10:53:55
Dernière modification le : mardi 14 décembre 2021 - 14:52:01

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

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