References
- Lusk L, Smith S, Martin C, Chung W. PACS1 neurodevelopmental disorder summary genetic counseling suggestive findings. Published online. 2021. 1–15.
- Schuurs-Hoeijmakers JHM, Oh EC, Vissers LELM, Swinkels MM, Gilissen C, Willemsen M, Holvoet M, Steehouwer M, Veltman J, de Vries BA, et al. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome. Am J Hum Genet. 2012;91(6):1122–7. doi:10.1016/J.AJHG.2012.10.013.
- Schermer B, Höpker K, Omran H, Ghenoiu C, Fliegauf M, Fekete A, Horvath J, Köttgen M, Hackl M, Zschiedrich S, et al. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. Embo J. 2005;24(24):4415–24. doi:10.1038/sj.emboj.7600885.
- Liebau MC, Höpker K, Müller RU, Schmedding I, Zank S, Schairer B, Fabretti F, Höhne M, Bartram MP, Dafinger C, et al. Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia. J Biol Chem. 2011;286(16):14237–45. doi:10.1074/jbc.M110.165464.
- Tenorio-Castaño J, Morte B, Nevado J, Martinez-Glez V, Santos-Simarro F, García-Miñaúr S, Palomares-Bralo M, Pacio-Míguez M, Gómez B, Arias P, et al. Schuurs–hoeijmakers syndrome (PACS1 neurodevelopmental disorder): seven novel patients and a review. Genes (Basel). 2021;12(5):738. doi:10.3390/genes12050738.
- Miyake N, Ozasa S, Mabe H, Kimura S, Shiina M, Imagawa E, Miyatake S, Nakashima M, Mizuguchi T, Takata A, et al. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome. Clin Genet. 2018;93(4):929–30. doi:10.1111/cge.13105.
- Robson AG, Frishman LJ, Grigg J, Hamilton R, Jeffrey BG, Kondo M, Li S, McCulloch DL. ISCEV standard for full-field clinical electroretinography (2022 update). Doc Ophthalmol. 2022;144(3):165–77. doi:10.1007/s10633-022-09872-0.
- Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006;17(5):447–70. doi:10.1097/01.icu.0000243020.82380.f6.
- Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E. Ocular colobomata. Surv Ophthalmol. 2000;45(3):175–94. doi:10.1016/S0039-6257(00)00151-X.
- Skriapa Manta A, Olsson M, Ek U, Wickström R, Teär Fahnehjelm K. Optic disc coloboma in children - prevalence, clinical characteristics and associated morbidity. Acta Ophthalmol. 2019;97(5):478–85. doi:10.1111/aos.13999.
- Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Ocular coloboma-a comprehensive review for the clinician. Eye (Lond). 2021;35(8):2086–109. doi:10.1038/s41433-021-01501-5.
- Hartong D, Berson E, Dryja T. Retinitis pigmentosa prevalence and inheritance patterns. Lancet. 2006;368(9549):1795–809. doi:10.1016/S0140-6736(06)69740-7.
- Georgiou M, Fujinami K, Michaelides M. Inherited retinal diseases: therapeutics, clinical trials and end points—a review. Clin Exp Ophthalmol. 2021;49(3):270–88. doi:10.1111/ceo.13917.
- Bujakowska KM, Liu Q, Pierce EA. Photoreceptor cilia and retinal ciliopathies. Cold Spring Harb Perspect Biol. 2017;9(10):a028274. doi:10.1101/cshperspect.a028274.
- Ronquillo CC, Bernstein PS, Baehr W. Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. Vision Res. 2012;75:88–97. doi:10.1016/J.VISRES.2012.07.003.