Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

  title={Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients},
  author={Kristien P. Hoornaert and Inge Vereecke and Chantal Dewinter and Thomas Rosenberg and Frits A. Beemer and Jules Gerard Leroy and Laila Bendix and Erik J Bj{\"o}rck and Maryse Bonduelle and Odile Boute and Val{\'e}rie Cormier-Daire and Christine E. M. de Die-Smulders and Anne Dieux-Coeslier and H{\'e}l{\`e}ne J Dollfus and Mariet W. Elting and Andrew Green and Veronica Ileana Guerci and Raoul C Hennekam and Yvonne Hilhorts-Hofstee and Muriel Holder and Carel B. Hoyng and Kristi J. Jones and Dragana J. Josifova and Ilkka I Kaitila and Suzanne Kjaergaard and Yolande H Kroes and Kristina Lagerstedt and Melissa Lees and Martine Lemerrer and Cinzia Magnani and Carlo L.M Marcelis and Loreto Martorell and Mich{\'e}le Mathieu and Meriel M. McEntagart and Angela Mendicino and Jenny Morton and Gabrielli Orazio and V{\'e}ronique Paquis and Orit Reish and Kalle O.J. Simola and Sarah F. Smithson and Karen I. Temple and Elisabeth Van Aken and Yolande van Bever and Jenneke van den Ende and Johanna M. van Hagen and Leopoldo Zelante and Riina Zordania and Anne De Paepe and Bart Peter Leroy and Marc De Buyzere and Paul J Coucke and Geert R. Mortier},
  journal={European Journal of Human Genetics},
Stickler syndrome is an autosomal dominant connective tissue disorder caused by mutations in different collagen genes. The aim of our study was to define more precisely the phenotype and genotype of Stickler syndrome type 1 by investigating a large series of patients with a heterozygous mutation in COL2A1. In 188 probands with the clinical diagnosis of Stickler syndrome, the COL2A1 gene was analyzed by either a mutation scanning technique or bidirectional fluorescent DNA sequencing. The effect… CONTINUE READING


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