Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 12, 2012, Pages 3112-3118

  Takanashi, Jun Ichi ^a,b   Okamoto, Nobuhiko ^c   Yamamoto, Yuto ^c   Hayashi, Shin ^d   Arai, Hiroshi ^e   Takahashi, Yukitoshi ^f   Maruyama, Koichi ^g   Mizuno, Seiji ^g   Shimakawa, Shuichi ^h   Ono, Hiroaki ⁱ   Oyanagi, Reiki ^j   Kubo, Satomi ^k   Barkovich, A James ^l   Inazawa, Johji ^d  

^a KAMEDA MEDICAL CENTER   (Japan)

^b TOHO UNIVERSITY SAKURA MEDICAL CENTER   (Japan)

^c RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^d TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^e Morinomiya Hospital   (Japan)

^f SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

^g Aichi Prefectural Colony Central Hospital   (Japan)

^h OSAKA MEDICAL COLLEGE   (Japan)

ⁱ HIROSHIMA PREFECTURAL HOSPITAL   (Japan)

^j HOKKAIDO MEDICAL CENTER   (Japan)

^k NARA MEDICAL UNIVERSITY HOSPITAL   (Japan)

^l UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

CASK; Cerebellar hypoplasia; Epilepsy; Intellectual disability; Microcephaly; MRI; Pontine hypoplasia

Indexed keywords

ADOLESCENT; ARTICLE; BIRTH; BODY HEIGHT; BODY WEIGHT; BRAIN DEVELOPMENT; BRAIN STEM HYPOPLASIA; CAST GENE; CEREBELLUM HYPOPLASIA; CHILD; CHILD DEVELOPMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CORPUS CALLOSUM; DISEASE ASSOCIATION; DISEASE SEVERITY; EPILEPSY; FACIES; FEMALE; GENE; GENE MUTATION; GROWTH; GROWTH RETARDATION; HEAD CIRCUMFERENCE; HEAD CONTROL; HUMAN; INTELLECTUAL IMPAIRMENT; JAPANESE; MALE; MICROCEPHALY; MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; MOTOR NEURON DISEASE; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; POSTNATAL GROWTH; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIODIAGNOSIS; RETROSPECTIVE STUDY; SCHOOL CHILD;

EID: 84870248621     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35640     Document Type: Article

References (11)

1. 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. 2010. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet 18: 544-552.
2. Hayashi S, Mizuno S, Migata O, Okuyama T, Makita Y, Hata A, Imoto I, Inazawa J. 2008. The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation. Am J Med Genet Part A 146A: 2145-2151.
3. Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J. 2012. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet 131: 99-110.
4. Hsueh YP. 2006. The role of the MAGUK protein CASK in neural development and synaptic function. Curr Med Chem 13: 1915-1927.
5. Hsueh YP. 2009. Calcium/calmodulin-dependent serine protein kinase and mental retardation. Ann Neurol 66: 438-443.
6. 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. 2011. Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet 48: 741-751.
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. 2008. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet 40: 1065-1067.
8. Ninchoji J, Takanashi J. 2010. Pontine hypoplasia in 5p- syndrome; a key MRI finding for a diagnosis. Brain Dev 32: 571-573.
9. Piluso G, D'Amico F, Saccone V, Bismuto E, Rotundo IL, Di Domenico M, Aurino S, Schwartz CE, Neri G, Nigro V. 2009. A missense mutations in CASK causes FG syndrome in an Italian family. Am J Hum Genet 84: 162-177.
10. Takanashi J, Arai H, Nabatame S, Hirai S, Hayashi S, Inazawa J, Okamoto N, Barkovich AJ. 2010. Neuroradiological features of CASK mutations. AJNR Am J Neuroradiol 31: 1619-1622.
11. Tanaka M, Tanaka Y, Hamano S, Nara T, Imai M. 1997. A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: Changes in clinical and neuroradiological findings. (In Japanese) No To Hattatsu 29: 488-493.