Jean-Luc Alessandri, Tristan Celse, Marta Spodenkiewicz, Anais Calaya, Coralie Dumont, Marie-Line Jacquemont, Bénédicte Bertaut-Nativel, Brahim Boumahni, Mathilde Rémy, Fanny Ferroul, Suzie Guilly, Thomas Huby, Mireille Irabé, Tiffany Laurens, Patrick Munier, Godelieve Morel, Frédérique Payet, Hanitra Randrianaivo, Bérénice Doray, Jessica Dospeux
Larsen of La Réunion Island syndrome (LRS) is an autosomal recessive condition associated with multiple large joint dislocations, clubfeet, severe dwarfism, and distinctive facial features. LRS is caused by a recurrent homozygous variant in B4GALT7 gene with a founder effect in La Réunion population. Proteoglycans (PG) that are a major component of the extracellular matrix, are composed of a core protein connected to a glycosaminoglycans side chain via a tetrasaccharide linker region. B4GALT7 encodes galactosyltransferase I, one of the enzymes involved in the biosynthesis of the linker region...
May 3, 2024: European Journal of Medical Genetics