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Yang, C. CASK-Related Intellectual Disability. Encyclopedia. Available online: https://encyclopedia.pub/entry/5046 (accessed on 22 September 2026).
Yang C. CASK-Related Intellectual Disability. Encyclopedia. Available at: https://encyclopedia.pub/entry/5046. Accessed September 22, 2026.
Yang, Catherine. "CASK-Related Intellectual Disability" Encyclopedia, https://encyclopedia.pub/entry/5046 (accessed September 22, 2026).
Yang, C. (2020, December 24). CASK-Related Intellectual Disability. In Encyclopedia. https://encyclopedia.pub/entry/5046
Yang, Catherine. "CASK-Related Intellectual Disability." Encyclopedia. Web. 24 December, 2020.
CASK-Related Intellectual Disability
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cask-related-intellectual-disability

CASK-related intellectual disability is a disorder of brain development that has two main forms: microcephaly with pontine and cerebellar hypoplasia (MICPCH), and X-linked intellectual disability (XL-ID) with or without nystagmus. Within each of these forms, males typically have more severe signs and symptoms than do females; the more severe MICPCH mostly affects females, likely because only a small number of males survive to birth.

genetic conditions

References

  1. Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F,Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S,Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB,Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys withCASK mutations: confirmation of a recognizable phenotype and first description ofa male mosaic patient. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi:10.1186/1750-1172-7-18.
  2. Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP,Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE. CASKmutations are frequent in males and cause X-linked nystagmus and variable XLMRphenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220.
  3. Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I,Inazawa J. Novel intragenic duplications and mutations of CASK in patients withmental retardation and microcephaly with pontine and cerebellar hypoplasia(MICPCH). Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047-0.
  4. Hsueh YP. Calcium/calmodulin-dependent serine protein kinase and mentalretardation. Ann Neurol. 2009 Oct;66(4):438-43. doi: 10.1002/ana.21755. Review.
  5. Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S,Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT,Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Phenotypic spectrum associated withCASK loss-of-function mutations. J Med Genet. 2011 Nov;48(11):741-51. doi:10.1136/jmedgenet-2011-100218.
  6. Moog U, Kutsche K. CASK Disorders. 2013 Nov 26 [updated 2020 May 21]. In: AdamMP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK169825/
  7. Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL,Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U,Klopocki E, Dobyns WB, Kutsche K. Mutations of CASK cause an X-linked brainmalformation phenotype with microcephaly and hypoplasia of the brainstem andcerebellum. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.
  8. Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. A novelinteraction between FRMD7 and CASK: evidence for a causal role in idiopathicinfantile nystagmus. Hum Mol Genet. 2013 May 15;22(10):2105-18. doi:10.1093/hmg/ddt060.
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Subjects: Genetics & Heredity
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Update Date: 24 Dec 2020
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