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Article

Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).

European journal of medical genetics - 1 Jun 2024

Alessandri Jean-Luc, Celse Tristan, Spodenkiewicz Marta, Calaya Anais, Dumont Coralie, Jacquemont Marie-Line, Bertaut-Nativel Bénédicte, Boumahni Brahim, Rémy Mathilde, Ferroul Fanny, Guilly Suzie, Huby Thomas, Irabé Mireille, Laurens Tiffany, Munier Patrick, Morel Godelieve, Payet Frédérique, Randrianaivo Hanitra, Doray Bérénice, Dospeux Jessica

Abstract excerpt

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...

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PMID: 38705458
DOI: 10.1016/j.ejmg.2024.104940

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