Article
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.
American journal of medical genetics. Part A - 1 Feb 2007
Majava Marja, Hoornaert Kristien P, Bartholdi Deborah, Bouma Mieke C, Bouman Katelijne, Carrera Marta, Devriendt Koenraad, Hurst Jane, Kitsos George, Niedrist Dunja, Petersen Michael B, Shears Debbie, Stolte-Dijkstra Irene, Van Hagen J M, Ala-Kokko Leena, Männikkö Minna, Mortier Geert R
Abstract excerpt
A series of 44 unrelated patients in whom COL2A1 screening demonstrated normal results but whose phenotype was nevertheless highly suggestive of either Stickler syndrome (with ocular involvement) or Marshall syndrome were investigated for mutations in the COL11A1 gene. Heterozygous COL11A1 mutations were found in 10 individuals. A splice site alteration (involving introns 47-55) was present in seven cases, with...
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