Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum

Abstract excerpt

Marshall–Stickler syndrome represents a spectrum of inherited connective tissue disorders affecting the ocular, auditory, and skeletal systems. The syndrome is caused by mutations in the COL2A1 , COL11A1 , COL11A2 , COL9A1 , and COL9A2 genes. In this study, we examined four Turkish families with Marshall–Stickler syndrome using whole-exome sequencing and identified one COL2A1 mutation and three COL11A1 mutations....

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