Nature Communications (Aug 2018)
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
- Johanne Dubail,
- Céline Huber,
- Sandrine Chantepie,
- Stephan Sonntag,
- Beyhan Tüysüz,
- Ercan Mihci,
- Christopher T. Gordon,
- Elisabeth Steichen-Gersdorf,
- Jeanne Amiel,
- Banu Nur,
- Irene Stolte-Dijkstra,
- Albertien M. van Eerde,
- Koen L. van Gassen,
- Corstiaan C. Breugem,
- Alexander Stegmann,
- Caroline Lekszas,
- Reza Maroofian,
- Ehsan Ghayoor Karimiani,
- Arnaud Bruneel,
- Nathalie Seta,
- Arnold Munnich,
- Dulce Papy-Garcia,
- Muriel De La Dure-Molla,
- Valérie Cormier-Daire
Affiliations
- Johanne Dubail
- Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades
- Céline Huber
- Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades
- Sandrine Chantepie
- Cell Growth and Tissue Repair CRRET Laboratory, Université Paris-Est Créteil, EA 4397 CNRS 9215
- Stephan Sonntag
- PolyGene AG
- Beyhan Tüysüz
- Department of Pediatric Genetics, Cerrahpasa Medicine School, Istanbul University
- Ercan Mihci
- Akdeniz University Paediatric Genetic Deaprtment
- Christopher T. Gordon
- Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine
- Elisabeth Steichen-Gersdorf
- Department of Paediatrics I, Medical University of Innsbruck
- Jeanne Amiel
- Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine
- Banu Nur
- Department of Pediatric Genetics, Cerrahpasa Medicine School, Istanbul University
- Irene Stolte-Dijkstra
- Department of Genetics, University Medical Center Groningen, University of Groningen
- Albertien M. van Eerde
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Koen L. van Gassen
- Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht
- Corstiaan C. Breugem
- Division of Paediatric Plastic Surgery, Wilhelmina Children´s Hopsital
- Alexander Stegmann
- Department of Human Genetics, Radboud University Medical Center
- Caroline Lekszas
- Institute of Human Genetics, Julius Maximilians University Würzburg
- Reza Maroofian
- Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, Cranmer Terrace
- Ehsan Ghayoor Karimiani
- Genetics Research Centre, Molecular and Clinical Sciences Institute, St George’s, University of London, Cranmer Terrace
- Arnaud Bruneel
- AP-HP, Biochimie Métabolique et cellulaire, Hôpital Bichat
- Nathalie Seta
- AP-HP, Biochimie Métabolique et cellulaire, Hôpital Bichat
- Arnold Munnich
- Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades
- Dulce Papy-Garcia
- Cell Growth and Tissue Repair CRRET Laboratory, Université Paris-Est Créteil, EA 4397 CNRS 9215
- Muriel De La Dure-Molla
- Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades
- Valérie Cormier-Daire
- Department of Genetics, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, AP-HP, Hôpital Necker Enfants Malades
- DOI
- https://doi.org/10.1038/s41467-018-05191-8
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 15
Abstract
The majority of skeletal dysplasia are caused by pathogenic variants in genes required for glycosaminoglycan (GAG) metabolism. Here, Dubail et al. identify genetic variants in the solute carrier family protein SLC10A7 in families with skeletal dysplasia and amelogenesis imperfecta that disrupt GAG synthesis.
