Stickler Syndrome, Dominant

MedGen UID:: 893682
•Concept ID:: CN239460
•: Disease or Syndrome

Professional guidelines

PubMed

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS
Mol Genet Genomic Med 2021 May;9(5):e1628. Epub 2021 May 5 doi: 10.1002/mgg3.1628. PMID: 33951325 Free PMC Article

Mutation survey and genotype-phenotype analysis of COL2A1 and COL11A1 genes in 16 Chinese patients with Stickler syndrome.

Wang X, Jia X, Xiao X, Li S, Li J, Li Y, Wei Y, Liang X, Guo X
Mol Vis 2016;22:697-704. Epub 2016 Jun 23 PMID: 27390512 Free PMC Article

Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

Hoornaert KP, Vereecke I, Dewinter C, Rosenberg T, Beemer FA, Leroy JG, Bendix L, Björck E, Bonduelle M, Boute O, Cormier-Daire V, De Die-Smulders C, Dieux-Coeslier A, Dollfus H, Elting M, Green A, Guerci VI, Hennekam RC, Hilhorts-Hofstee Y, Holder M, Hoyng C, Jones KJ, Josifova D, Kaitila I, Kjaergaard S, Kroes YH, Lagerstedt K, Lees M, Lemerrer M, Magnani C, Marcelis C, Martorell L, Mathieu M, McEntagart M, Mendicino A, Morton J, Orazio G, Paquis V, Reish O, Simola KO, Smithson SF, Temple KI, Van Aken E, Van Bever Y, van den Ende J, Van Hagen JM, Zelante L, Zordania R, De Paepe A, Leroy BP, De Buyzere M, Coucke PJ, Mortier GR
Eur J Hum Genet 2010 Aug;18(8):872-80. Epub 2010 Feb 24 doi: 10.1038/ejhg.2010.23. PMID: 20179744 Free PMC Article

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Recent clinical studies

Therapy

Basedow-Graves' disease in a pediatric patient with Sticlker syndrome, a new endocrine finding to improve personalized treatment.

Onesimo R, De Rose C, Cipolla C, Casa SD, Leoni C, Salerni A, Ricci D, Zampino G
Ital J Pediatr 2020 Dec 1;46(1):178. doi: 10.1186/s13052-020-00945-x. PMID: 33256801 Free PMC Article

Familial high myopia: evidence of an autosomal dominant mode of inheritance and genetic heterogeneity.

Naiglin L, Clayton J, Gazagne C, Dallongeville F, Malecaze F, Calvas P
Ann Genet 1999;42(3):140-6. PMID: 10526656

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Prognosis

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.

Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS
PLoS One 2023;18(12):e0295851. Epub 2023 Dec 28 doi: 10.1371/journal.pone.0295851. PMID: 38153936 Free PMC Article

Incidence of mandibular distraction osteogenesis in Stickler Syndrome: Variation due to COL2A1 and COL11A1.

Swanson D, Ba'th F, Zavala H, Chinnadurai S, Roby BB
Int J Pediatr Otorhinolaryngol 2021 Jul;146:110749. Epub 2021 Apr 29 doi: 10.1016/j.ijporl.2021.110749. PMID: 34004386

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
Invest Ophthalmol Vis Sci 2011 Jul 1;52(7):4774-9. doi: 10.1167/iovs.10-7128. PMID: 21421862

Clinical features of the congenital vitreoretinopathies.

Edwards AO
Eye (Lond) 2008 Oct;22(10):1233-42. Epub 2008 Feb 29 doi: 10.1038/eye.2008.38. PMID: 18309337

The Wagner-Stickler syndrome complex.

Godel V, Nemet P, Lazar M
Doc Ophthalmol 1981 Dec 16;52(2):179-88. doi: 10.1007/BF01675204. PMID: 7035111

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Clinical prediction guides

Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.

Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.

Madhuri V, Selina A, Loganathan L, Kumar A, Kumar V, Raymond R, Ramesh S, Vincy N, Joel G, James D, Kandagaddala M, B A
Ann Hum Genet 2021 Jan;85(1):37-46. Epub 2020 Aug 7 doi: 10.1111/ahg.12403. PMID: 32770541

WAGNER syndrome: anatomic, functional and genetic characterization of a Portuguese family.

Araújo JR, Tavares-Ferreira J, Estrela-Silva S, Rocha P, Brandão E, Faria PA, Falcão-Reis F, Rocha-Sousa A
Graefes Arch Clin Exp Ophthalmol 2018 Jan;256(1):163-171. Epub 2017 Oct 25 doi: 10.1007/s00417-017-3800-0. PMID: 29071374

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Sergouniotis PI, Fincham GS, McNinch AM, Spickett C, Poulson AV, Richards AJ, Snead MP
Eye (Lond) 2015 Apr;29(4):475-82. Epub 2015 Jan 16 doi: 10.1038/eye.2014.334. PMID: 25592122 Free PMC Article

The hip in Stickler syndrome.

Rose PS, Ahn NU, Levy HP, Magid D, Davis J, Liberfarb RM, Sponseller PD, Francomano CA
J Pediatr Orthop 2001 Sep-Oct;21(5):657-63. PMID: 11521037

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