A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.

@article{Richards1996AFW,
  title={A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen.},
  author={Allan James Richards and John R. Yates and Rashida A Williams and Stewart J. Payne and F. M. Pope and John D. Scott and Martin Paul Snead},
  journal={Human molecular genetics},
  year={1996},
  volume={5 9},
  pages={1339-43}
}
Stickler syndrome (hereditary arthro-ophthalmopathy) is the commonest inherited cause of retinal detachment and one of the commonest autosomal dominant connective tissue dysplasias. There is clinical and locus heterogeneity with about two thirds of families linked to the gene encoding type II procollagen (COL2A1). Families with Sticklers syndrome type 1 have a characteristic congenital vitreous anomaly and are linked without recombination to markers at the COL2A1 locus. In contrast families… CONTINUE READING

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