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Autosomal recessive Stickler syndrome resulting from a COL9A3 mutation.
Hanson-Kahn A, Li B, Cohn DH, Nickerson DA, Bamshad MJ; University of Washington Center for Mendelian Genomics; Hudgins L. Hanson-Kahn A, et al. Am J Med Genet A. 2018 Dec;176(12):2887-2891. doi: 10.1002/ajmg.a.40647. Epub 2018 Nov 18. Am J Med Genet A. 2018. PMID: 30450842 Free PMC article. Review.
The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of autosomal recessive Stickler syndrome due to homozygosity for a loss of function mutation in COL9A3, which encodes the …
The autosomal dominant form is the most common, but autosomal recessive forms have also been described. We report the second case of auto …
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
Chan TK, Alkaabi MK, ElBarky AM, El-Hattab AW. Chan TK, et al. Clin Genet. 2019 Feb;95(2):325-328. doi: 10.1111/cge.13465. Epub 2018 Nov 18. Clin Genet. 2019. PMID: 30362103
Rarely, biallelic mutations in COL9A1, COL9A2, and COL9A3 cause an autosomal recessive Stickler syndrome. One previous report described two siblings with Stickler syndrome and a homozygous mutation in LOXL3, suggesting that biallelic mutations in LOXL3 …
Rarely, biallelic mutations in COL9A1, COL9A2, and COL9A3 cause an autosomal recessive Stickler syndrome. One pr …
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.
Nikopoulos K, Schrauwen I, Simon M, Collin RW, Veckeneer M, Keymolen K, Van Camp G, Cremers FP, van den Born LI. Nikopoulos K, et al. Invest Ophthalmol Vis Sci. 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. Invest Ophthalmol Vis Sci. 2011. PMID: 21421862
PURPOSE: To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to delineate the associated phenotype. ...CONCLUSIONS: A second, novel mutation was identified in COL9A1, causing autosomal recessive …
PURPOSE: To investigate COL9A1 in two families suggestive of autosomal recessive Stickler syndrome and to deline …
Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss.
Hofrichter MAH, Doll J, Habibi H, Enayati S, Vahidi Mehrjardi MY, Müller T, Dittrich M, Haaf T, Vona B. Hofrichter MAH, et al. Eur J Med Genet. 2019 Oct;62(10):103724. doi: 10.1016/j.ejmg.2019.103724. Epub 2019 Jul 14. Eur J Med Genet. 2019. PMID: 31315069 Free article.
Pathogenic variants in COL9A1 are primarily associated with autosomal recessive Stickler syndrome. Patients with COL9A1-associated Stickler syndrome (STL) present hearing loss (HL), ophthalmic manifestations and skeletal abnormalities. ...
Pathogenic variants in COL9A1 are primarily associated with autosomal recessive Stickler syndrome. Patients with …