Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation

We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation inCOL9A3, which encodes the α3 chain of type IX procollagen. The clinical features were similar to the previously describedCOL9A3 Stickler syndrome family, including moderate to severe sensorineural hearing loss, high myopia, and both tibial and femoral bowing at birth. Radiographs demonstrated abnormal capital femoral epiphyses and mild irregularities of the vertebral endplates. This case further establishes the phenotype associated with mutations in this gene. We suggest that loss of the α3 chain of type IX collagen results in a Stickler syndrome phenotype similar to that of the other autosomal recessive forms caused by mutations in genes encoding the α1 and α2 chains of type IX collagen.

Source: American Journal of Medical Genetics Part A - November 18, 2018 Category: Genetics & Stem Cells Authors: Andrea Hanson ‐Kahn, Bing Li, Daniel H. Cohn, Deborah A. Nickerson, Michael J. Bamshad, University of Washington Center for Mendelian Genomics, Louanne Hudgins Tags: CLINICAL REPORT Source Type: research