Stickler Syndrome (2024)

  • AckeFR, MalfaitF, VanakkerOM, SteyaertW, De LeeneerK, MortierG, DhoogeI, De PaepeA, De LeenheerEM, CouckePJ. Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.Mol Genet Metab.2014;113:230-5. [PubMed: 25240749]

  • AckeFRE, De LeenheerEMR. Hearing loss in Stickler syndrome: an update.Genes (Basel). 2022;13:1571. [PMC free article: PMC9498449] [PubMed: 36140739]

  • AlexanderP, SneadMP. Prevention of blindness in Stickler syndrome.Genes (Basel). 2022;13:1150. [PMC free article: PMC9318672] [PubMed: 35885933]

  • BootheM, MorrisR, RobinN.Stickler syndrome: a review of clinical manifestations and the genetics evaluation.J Pers Med.2020;10:105. [PMC free article: PMC7564399] [PubMed: 32867104]

  • BoysenKB, La CourM, KesselL. Ocular complications and prophylactic strategies in Stickler syndrome: a systematic literature review.Ophthalmic Genet.2020;41:223-34. [PubMed: 32316871]

  • ChoiSI, WooSJ, OhBL, HanJ, LimHT, LeeBJ, JooK, ParkJY, JangJH, SoMK, KimSJ. Genetic characteristics and phenotype of Korean patients with Stickler syndrome: a Korean multicenter analysis report no. 1.Genes (Basel). 2021;12:1578. [PMC free article: PMC8536015] [PubMed: 34680973]

  • DaviesA, DaviesA, WrenY, DeaconS, CobbA, McLeanN, DavidD, ChummunS.Syndromes associated with Robin sequence: a national prospective cohort study.Arch Dis Child.2023;108:42-6. [PubMed: 36376018]

  • DonosoLA, EdwardsAO, FrostAT, RitterR3rd, AhmadN, VrabecT, RogersJ, MeyerD, ParmaS. Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene.Surv Ophthalmol.2003;48:191-203. [PubMed: 12686304]

  • HoornaertKP, VereeckeI, DewinterC, RosenbergT, BeemerFA, LeroyJG, BendixL, BjörckE, BonduelleM, BouteO, Cormier-DaireV, De Die-SmuldersC, Dieux-CoeslierA, DollfusH, EltingM, GreenA, GuerciVI, HennekamRC, Hilhorts-HofsteeY, HolderM, HoyngC, JonesKJ, JosifovaD, KaitilaI, KjaergaardS, KroesYH, LagerstedtK, LeesM, LemerrerM, MagnaniC, MarcelisC, MartorellL, MathieuM, McEntagartM, MendicinoA, MortonJ, OrazioG, PaquisV, ReishO, SimolaKO, SmithsonSF, TempleKI, Van AkenE, Van BeverY, van den EndeJ, Van HagenJM, ZelanteL, ZordaniaR, De PaepeA, LeroyBP, De BuyzereM, CouckePJ, MortierGR. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Eur J Hum Genet.2010;18:872-80. [PMC free article: PMC2987380] [PubMed: 20179744]

  • HuangSJ, AmendolaLM, SternenDL. Variation among DNA banking consent forms: points for clinicians to bank on.J Community Genet.2022;13:389-97. [PMC free article: PMC9314484] [PubMed: 35834113]

  • JónssonH, SulemP, KehrB, KristmundsdottirS, ZinkF, HjartarsonE, HardarsonMT, HjorleifssonKE, EggertssonHP, GudjonssonSA, WardLD, ArnadottirGA, HelgasonEA, HelgasonH, GylfasonA, JonasdottirA, JonasdottirA, RafnarT, FriggeM, StaceySN, Th MagnussonO, ThorsteinsdottirU, MassonG, KongA, HalldorssonBV, HelgasonA, GudbjartssonDF, StefanssonK. Parental influence on human germline de novo mutations in 1,548 trios from Iceland.Nature.2017;549:519-22. [PubMed: 28959963]

  • KarempelisP, HagenM, MorrellN, RobyBB. Associated syndromes in patients with Pierre Robin sequence.Int J Pediatr Otorhinolaryngol.2020;131:109842. [PubMed: 31927149]

  • KhannaS, RodriguezSH, BlairMA, WroblewskiK, ShapiroMJ, BlairMP. Laser prophylaxis in patients with Stickler syndrome.Ophthalmol Retina.2022;6:263-7. [PubMed: 34774838]

  • LauritsenKF, LildballeDL, CouckePJ, MonradR, LarsenDA, GregersenPA. A mild form of Stickler syndrome type II caused by mosaicism of COL11A1.Eur J Med Genet.2017;60:275-8. [PubMed: 28315471]

  • LeeAC, GreavesGH, RosenblattBJ, DeramoVA, ShakinEP, FastenbergDM, FerronePJ. Long-term follow-up of retinal detachment repair in patients with Stickler syndrome.Ophthalmic Surg Lasers Imaging Retina.2020;51:612-6. [PubMed: 33231693]

  • MajavaM, HoornaertKP, BartholdiD, BoumaMC, BoumanK, CarreraM, DevriendtK, HurstJ, KitsosG, NiedristD, PetersenMB, ShearsD, Stolte-DijkstraI, Van HagenJM, Ala-KokkoL, MännikköM, MortierG. A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.Am J Med Genet A.2007;143A:258-64 [PubMed: 17236192]

  • MorrisRE, ParmaES, RobinNH, SappMR, OltmannsMH, WestMR, FletcherDC, SchuchardRA, KuhnF. Stickler syndrome (SS): laser prophylaxis for retinal detachment (modified ora secunda cerclage, OSC/SS).Clin Ophthalmol.2021;15:19-29. [PMC free article: PMC7802593] [PubMed: 33447008]

  • NagendranS, RichardsAJ, McNinchA, SandfordRN, SneadMP. Somatic mosaicism and the phenotypic expression of COL2A1 mutations.Am J Med Genet A.2012May;158A(5):1204-7. [PubMed: 22496037]

  • NixonT, RichardsAJ, LomasA, AbbsS, VasudevanP, McNinchA, AlexanderP, SneadMP. Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.Mol Genet Genomic Med.2020;8:e1354. [PMC free article: PMC7507023] [PubMed: 32578940]

  • NixonTRW, RichardsA, TownsLK, FullerG, AbbsS, AlexanderP, McNinchA, SandfordRN, SneadMP. Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.Eur J Hum Genet.2019;27:369-77. [PMC free article: PMC6460578] [PubMed: 30568244]

  • NixonTRW, RichardsAJ, MartinH, AlexanderP, SneadMP. Autosomal recessive Stickler syndrome.Genes (Basel). 2022;13:1135. [PMC free article: PMC9324312] [PubMed: 35885918]

  • ParentinF, SangalliA, MottesM, PerissuttiP. Stickler syndrome and vitreoretinal degeneration: correlation between locus mutation and vitreous phenotype. Apropos of a case.Graefes Arch Clin Exp Ophthalmol.2001;239:316-9 [PubMed: 11450497]

  • RichardsAJ, FinchamGS, McNinchA, HillD, PoulsonAV, CastleB, LeesMM, MooreAT, ScottJD, SneadMP. Alternative splicing modifies the effect of mutations in COL11A1 and results in recessive type 2 Stickler syndrome with profound hearing loss.J Med Genet.2013;50:765-71. [PMC free article: PMC3812854] [PubMed: 23922384]

  • RichardsS, AzizN, BaleS, BickD, DasS, Gastier-FosterJ, GrodyWW, HegdeM, LyonE, SpectorE, VoelkerdingK, RehmHL, et al.Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med.2015;17:405-24. [PMC free article: PMC4544753] [PubMed: 25741868]

  • RipandelliG, RossiT, PesciFR, CecereM, StirpeM. The prophylaxis of fellow eye retinal detachment in Stickler syndrome: a retrospective series.Retina.2022;42:250-5. [PubMed: 34534992]

  • RosePS, AhnNU, LevyHP, AhnUM, DavisJ, LiberfarbRM, NallamshettyL, SponsellerPD, FrancomanoCA. Thoracolumbar spinal abnormalities in Stickler syndrome.Spine.2001;26:403-9 [PubMed: 11224888]

  • Sirko-OsadsaDA, MurrayMA, ScottJA, LaveryMA, WarmanML, RobinNH. Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.J Pediatr1998;132:368-71. [PubMed: 9506662]

  • SneadMP, RichardsAJ, McNinchAM, AlexanderP, MartinH, NixonTRW, BaleP, ShenkerN, BrownS, BlackwellAM, PoulsonAV. Stickler syndrome - lessons from a national cohort.Eye (Lond). 2022;36:1966-72. [PMC free article: PMC8491173] [PubMed: 34611315]

  • SohZ, RichardsAJ, McNinchA, AlexanderP, MartinH, SneadMP. Dominant Stickler syndrome.Genes (Basel). 2022;13:1089. [PMC free article: PMC9222743] [PubMed: 35741851]

  • StensonPD, MortM, BallEV, ChapmanM, EvansK, AzevedoL, HaydenM, HeywoodS, MillarDS, PhillipsAD, CooperDN. The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.Hum Genet.2020;139:1197-207.. [PMC free article: PMC7497289] [PubMed: 32596782]

  • StevensonDA, VanzoR, DamjanovichK, HansonH, MuntzH, HoffmanRO, Bayrak-ToydemirP. Mosaicism in Stickler syndrome.Eur J Med Genet.2012;55:418-22. [PMC free article: PMC3674818] [PubMed: 22522174]

  • UngerS, FerreiraCR, MortierGR, AliH, BertolaDR, CalderA, CohnDH, Cormier-DaireV, GirishaKM, HallC, KrakowD, MakitieO, MundlosS, NishimuraG, RobertsonSP, SavarirayanR, SillenceD, SimonM, SuttonVR, WarmanML, Superti-FurgaA. Nosology of genetic skeletal disorders: 2023 revision.Am J Med Genet A.2023;191:1164-209. [PMC free article: PMC10081954] [PubMed: 36779427]

  • VikkulaM, MarimanEC, LuiVC, ZhidkovaNI, TillerGE, GoldringMB, van BeersumSE, de Waal MalefijtMC, van den HoogenFH, RopersHH, MayneR, CheahKSE, OlsenBR, WarmanML, BrunnerHG. Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.Cell.1995;80:431-7. [PubMed: 7859284]

  • VuCD, BrownJJr, KorkkoJ, RitterR3rd, EdwardsAO. Posterior chorioretinal atrophy and vitreous phenotype in a family with Stickler syndrome from a mutation in the COL2A1 gene.Ophthalmology.2003;110:70-7. [PubMed: 12511349]

  • VuoristoMM, PappasJG, JansenV, Ala-KokkoL. A stop codon mutation in COL11A2 induces exon skipping and leads to non-ocular Stickler syndrome.Am J Med Genet A.2004;130A:160-4. [PubMed: 15372529]

  • WaltersA, LambertN, BricelS, HwangT, IngE, TehraniS.Case series of Stickler syndrome presenting with acute angle closure.J Glaucoma.2020;29:992-4. [PMC free article: PMC7541778] [PubMed: 32604152]

  • Wang A, Nixon T, Martin H, Richards A, McNinch A, Alexander P, Pujari R, Bale P, Shenker N, Bearcroft P, Brown S, Blackwell A, Poulson A, Snead M. Legg-Calve-Perthes' disease: an opportunity to prevent blindness? Arch Dis Child. 2023:archdischild-2022-325059. [PubMed: 36882306]

  • WangDD, GaoFJ, HuFY, ZhangSH, XuP, WuJH. Mutation spectrum of Stickler syndrome type I and genotype-phenotype analysis in East Asian population: a systematic review.BMC Med Genet.2020;21:27. [PMC free article: PMC7008542] [PubMed: 32039712]

  • WubbenTJ, BranhamKH, BesirliCG, BohnsackBL. Retinal detachment and infantile-onset glaucoma in Stickler syndrome associated with known and novel COL2A1 mutations.Ophthalmic Genet.2018;39:615-8. [PubMed: 30130436]

  • Stickler Syndrome (2024)
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