PURPOSE: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations. METHODS: Review of medical records, clinical evaluations, and mutational analyses of clinically diagnosed Stickler patients. RESULTS: Patients with seven defined mutations had similar phenotypes, though both inter- and intrafamilial variability were apparent and extensive. The prevalence of certain clinical features was a function of age. CONCLUSION: Although the molecular determination of a mutation can predict the occurrence of Stickler syndrome, the variability observed in the families described here makes it difficult to predict the severity of the phenotype on the basis of genotype.
PURPOSE: To evaluate a cohort of clinically diagnosed Stickler patients in which the causative mutation has been identified, determine the prevalence of clinical features in this group as a whole and as a function of age, and look for genotype/phenotype correlations. METHODS: Review of medical records, clinical evaluations, and mutational analyses of clinically diagnosed Stickler patients. RESULTS: Patients with seven defined mutations had similar phenotypes, though both inter- and intrafamilial variability were apparent and extensive. The prevalence of certain clinical features was a function of age. CONCLUSION: Although the molecular determination of a mutation can predict the occurrence of Stickler syndrome, the variability observed in the families described here makes it difficult to predict the severity of the phenotype on the basis of genotype.
Authors: Salvatore Savasta; Vincenzo Salpietro; Maria Valentina Spartà; Thomas Foiadelli; Daniela Laino; Lucio Lobefalo; Gian Luigi Marseglia; Alberto Verrotti Journal: Eur J Pediatr Date: 2015-03-27 Impact factor: 3.183
Authors: Rebecca Bascom; Jane R Schubart; Susan Mills; Thomas Smith; Linda M Zukley; Clair A Francomano; Nazli McDonnell Journal: Am J Med Genet A Date: 2019-02-01 Impact factor: 2.802
Authors: Andrea Hanson-Kahn; Bing Li; Daniel H Cohn; Deborah A Nickerson; Michael J Bamshad; Louanne Hudgins Journal: Am J Med Genet A Date: 2018-11-18 Impact factor: 2.802
Authors: Ravikanth Metlapally; Yi-Ju Li; Khanh-Nhat Tran-Viet; Diana Abbott; Gregory R Czaja; Francois Malecaze; Patrick Calvas; David Mackey; Thomas Rosenberg; Sandrine Paget; Tetyana Zayats; Michael J Owen; Jeremy A Guggenheim; Terri L Young Journal: Invest Ophthalmol Vis Sci Date: 2009-04-22 Impact factor: 4.799