Article
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Annals of human genetics - 1 Sept 2020
Čopíková Jana, Paděrová Jana, Románková Věra, Havlovicová Markéta, Balaščáková Miroslava, Zelinová Michaela, Vejvalková Šárka, Simandlová Martina, Štěpánková Jana, Hořínová Věra, Kantorová Eva, Křečková Gabriela, Pospíšilová Jana, Boday Arpád, Meszarosová Anna Uhrová, Turnovec Marek, Votýpka Pavel, Lišková Petra, Kremlíková Pourová Radka
Abstract excerpt
We report the clinical findings of 26 individuals from 16 unrelated families carrying variants in the COL2A1 or COL11A1 genes. Using Sanger and next-generation sequencing, 11 different COL2A1 variants (seven novel), were identified in 13 families (19 affected individuals), all diagnosed with Stickler syndrome (STL) type 1. In nine families, the COL2A1 disease-causing variant arose de novo. Phenotypically, we...
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