Article
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects.
Nature communications - 6 Aug 2018
Dubail Johanne, Huber Céline, Chantepie Sandrine, Sonntag Stephan, Tüysüz Beyhan, Mihci Ercan, Gordon Christopher T, Steichen-Gersdorf Elisabeth, Amiel Jeanne, Nur Banu, Stolte-Dijkstra Irene, van Eerde Albertien M, van Gassen Koen L, Breugem Corstiaan C, Stegmann Alexander, Lekszas Caroline, Maroofian Reza, Karimiani Ehsan Ghayoor, Bruneel Arnaud, Seta Nathalie, Munnich Arnold, Papy-Garcia Dulce, De La Dure-Molla Muriel, Cormier-Daire Valérie
Abstract excerpt
Skeletal dysplasia with multiple dislocations are severe disorders characterized by dislocations of large joints and short stature. The majority of them have been linked to pathogenic variants in genes encoding glycosyltransferases, sulfotransferases or epimerases required for glycosaminoglycan synthesis. Using exome sequencing, we identify homozygous mutations in SLC10A7 in six individuals with skeletal...
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