Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome

@article{Cartault2015ExpandingTC,
  title={Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome},
  author={François Cartault and Patrick Munier and Marie-Line Jacquemont and Jeannine Vellayoudom and B. J. Doray and Christine Payet and Hanitra Randrianaivo and J. L. Laville and Arnold Munnich and Val{\'e}rie Cormier-Daire},
  journal={European Journal of Human Genetics},
  year={2015},
  volume={23},
  pages={49-53}
}
First described as a variant of Larsen syndrome in Reunion Island (LRS) in the southern Indian Ocean, ‘Larsen of Reunion Island syndrome’ is characterized by dwarfism, hyperlaxity, multiple dislocations and distinctive facial features. It overlaps with Desbuquois dysplasia, Larsen syndrome and spondyloepiphyseal dysplasia with dislocations ascribed to CANT1, FLNB and CHST3 mutations, respectively. We collected the samples of 22 LRS cases. After exclusion of CANT1, FLNB and CHST3 genes, an exome… CONTINUE READING