Stickler syndrome

Definition:

Stickler syndrome (STL) is a hereditary connective tissue disorder of fibrillar collagen. It is characterized by ocular signs (myopia, vitreoretinal degeneration, retinal detachment and cataracts), arthropathy, deafness, cleft palate, micrognathia, and a characteristic flat face. Mutations in the COL2A1, COL11A1, COL11A2, COL9A1, and COL9A2 genes can cause Stickler syndrome.

References:

[1]. A J Richards, et al. 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. Hum Mol Genet. 1996 Sep;5(9):1339-43. [Content Brief]

[2]. Flavio Faletra, et al. Autosomal recessive Stickler syndrome due to a loss of function mutation in the COL9A3 gene. Am J Med Genet A. 2014 Jan;164A(1):42-7. [Content Brief]

[3]. H G Brunner, et al. A Stickler syndrome gene is linked to chromosome 6 near the COL11A2 gene. Hum Mol Genet. 1994 Sep;3(9):1561-4. [Content Brief]

[4]. Konstantinos Nikopoulos, et al. Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene. Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4774-9. [Content Brief]

[5]. Pukhraj Rishi, et al. Stickler syndrome. Indian J Ophthalmol. 2015 Jul;63(7):614-5. [Content Brief]

[6]. Stuart Baker, et al. A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome. Am J Med Genet A. 2011 Jul;155A(7):1668-72. [Content Brief]

[7]. Yoshinari Miyamoto, et al. A type II collagen mutation also results in oto-spondylo-megaepiphyseal dysplasia. Hum Genet. 2005 Nov;118(2):175-8. [Content Brief]

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