Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

Human Genetics

Volumn 131, Issue 1, 2012, Pages 99-110

  Hayashi, Shin ^a   Okamoto, Nobuhiko ^b   Chinen, Yasutsugu ^c   Takanashi, Jun Ichi ^d   Makita, Yoshio ^e   Hata, Akira ^f   Imoto, Issei ^a,g   Inazawa, Johji ^a  

^a Tokyo Medical and Dental University ^*  (Japan)

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

^c UNIVERSITY OF THE RYUKYUS   (Japan)

^d KAMEDA MEDICAL CENTER   (Japan)

^e ASAHIKAWA MEDICAL COLLEGE   (Japan)

^f CHIBA UNIVERSITY   (Japan)

^g UNIVERSITY OF TOKUSHIMA   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CASK PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXON; FEMALE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; HUMAN; INFANT; INTRON; MENTAL DEFICIENCY; MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; NULL MUTATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; GENE DUPLICATION; GUANYLATE KINASE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; MUTATION; PONS; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

MAMMALIA;

EID: 84856680555     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1047-0     Document Type: Article

References (26)

1. D Atasoy S Schoch A Ho KA Nadasy X Liu W Zhang K Mukherjee ED Nosyreva R Fernandez-Chacon M Missler ET Kavalali TC Südhof 2007 Deletion of CASK in mice is lethal and impairs synaptic function Proc Natl Acad Sci USA 104 2525 2530 17287346 10.1073/pnas.0611003104 1:CAS:528:DC%2BD2sXisVSgu7w%3D (Pubitemid 46391429)
2. HW Chao CJ Hong TN Huang YL Lin YP Hsueh 2008 SUMOylation of the MAGUK protein CASK regulates dendritic spinogenesis J Cell Biol 182 141 155 18606847 10.1083/jcb.200712094 1:CAS:528:DC%2BD1cXovVKisLg%3D (Pubitemid 352008628)
3. AR Cohen DF Woods SM Marfatia Z Walther AH Chishti JM Anderson 1998 Human CASK/LIN-2 binds syndecan-2 and protein 4.1 and localizes to the basolateral membrane of epithelial cells J Cell Biol 142 129 138 9660868 10.1083/jcb.142.1.129 1:CAS:528:DyaK1cXkslWhsb8%3D (Pubitemid 28341145)
4. G D'Arcangelo GG Miao SC Chen HD Soares JI Morgan T Curran 1995 A protein related to extracellular matrix proteins deleted in the mouse mutant reeler Nature 374 719 723 7715726 10.1038/374719a0
5. Y Hata S Butz TC Südhof 1996 CASK: a novel dlg/PSD95 homolog with an N-terminal calmodulin-dependent protein kinase domain identified by interaction with neurexins J Neurosci 16 2488 2494 8786425 1:CAS:528:DyaK28XitFKhtbY%3D (Pubitemid 26124345)
6. S Hayashi K Kurosawa I Imoto S Mizutani J Inazawa 2005 Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization Am J Med Genet A 139 32 36 16222686 (Pubitemid 41532936)
7. S Hayashi S Honda M Minaguchi Y Makita N Okamoto R Kosaki T Okuyama I Imoto S Mizutani J Inazawa 2007 Construction of a high-density and high-resolution human chromosome X array for comparative genomic hybridization analysis J Hum Genet 52 397 405 17406783 10.1007/s10038-007-0127-4 1:CAS:528:DC%2BD2sXks1yns7g%3D (Pubitemid 46669302)
8. S Hayashi S Mizuno O Migita T Okuyama Y Makita A Hata I Imoto J Inazawa 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 A 146A 2145 2151 18629876 10.1002/ajmg.a.32433 1:CAS:528: DC%2BD1cXhtVCks7jO
9. SE Hong YY Shugart DT Huang SA Shahwan PE Grant JO Hourihane ND Martin CA Walsh 2000 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with RELN mutations Nat Genet 26 93 96 10973257 10.1038/79246 1:CAS:528:DC%2BD3cXmsVKrsr8%3D
10. YP Hsueh 2006 The role of the MAGUK protein CASK in neural development and synaptic function Curr Med Chem 13 1915 1927 16842202 10.2174/ 092986706777585040 1:CAS:528:DC%2BD28Xms1Clt70%3D
11. YP Hsueh 2009 Calcium/calmodulin-dependent serine protein kinase and mental retardation Ann Neurol 66 438 443 19847910 10.1002/ana.21755 1:CAS:528:DC%2BD1MXhsVehtr3M
12. YP Hsueh TF Wang FC Yang M Sheng 2000 Nuclear transcription and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2 Nature 404 298 302 10749215 10.1038/35005118 1:CAS:528:DC%2BD3cXit1agt7s%3D (Pubitemid 30163549)
13. J Inazawa J Inoue I Imoto 2004 Comparative genomic hybridization (CGH)-arrays pave the way for identification of novel cancer-related genes Cancer Sci 95 559 563 15245590 10.1111/j.1349-7006.2004.tb02486.x 1:CAS:528:DC%2BD2cXnt1Wjsbw%3D (Pubitemid 39089635)
14. K Inoue H Osaka VC Thurston JT Clarke A Yoneyama L Rosenbarker TD Bird ME Hodes LG Shaffer JR Lupski 2002 Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females Am J Hum Genet 71 838 853 12297985 10.1086/342728 (Pubitemid 135750516)
15. M Irie Y Hata M Takeuchi K Ichtchenko A Toyoda K Hirao Y Takai TW Rosahl TC Südhof 1997 Binding of neuroligins to PSD-95 Science 277 1511 1515 9278515 10.1126/science.277.5331.1511 1:CAS:528:DyaK2sXlvVGksb4%3D (Pubitemid 27449240)
16. HG Laverty JB Wilson 1998 Murine CASK is disrupted in a sex-linked cleft palate mouse mutant Genomics 53 29 41 9787075 10.1006/geno.1998.5479 1:CAS:528:DyaK1cXntVWqt74%3D (Pubitemid 28489644)
17. J Najm D Horn I Wimplinger JA Golden VV Chizhikov J Sudi SL Christian R Ullmann A Kuechler CA Haas A Flubacher LR Charnas G Uyanik U Frank E Klopocki WB Dobyns K Kutsche 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 19165920 10.1038/ng.194 1:CAS:528:DC%2BD1cXhtVGgtrfN
18. M Ogawa T Miyata K Nakajima K Yagyu M Seike K Ikenaka H Yamamoto K Mikoshiba 1995 The reeler gene-associated antigen on Cajal-Retzius neurons is a crucial molecule for laminar organization of cortical neurons Neuron 14 899 912 7748558 10.1016/0896-6273(95)90329-1 1:CAS:528:DyaK2MXlsl2hsrY%3D
19. O Olsen KA Moore M Fukata T Kazuta JC Trinidad FW Kauer M Streuli H Misawa AL Burlingame RA Nicoll DS Bredt 2005 Neurotransmitter release regulated by a MALS-liprin-alpha presynaptic complex J Cell Biol 170 1127 1134 16186258 10.1083/jcb.200503011 1:CAS:528:DC%2BD2MXhtVKnsbvJ (Pubitemid 41362644)
20. G Piluso F D'Amico V Saccone E Bismuto IL Rotundo M Di Domenico S Aurino CE Schwartz G Neri V Nigro 2009 A missense mutation in CASK causes FG syndrome in an Italian family Am J Hum Genet 84 162 177 19200522 10.1016/j.ajhg.2008.12. 018 1:CAS:528:DC%2BD1MXisFCrt7k%3D
21. DS Rice M Sheldon G D'Arcangelo K Nakajima D Goldowitz T Curran 1998 Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain Development 125 3719 3729 9716537 1:CAS:528:DyaK1cXmslKmu70%3D (Pubitemid 28469972)
22. F Saito-Ohara Y Fukuda M Ito KL Agarwala M Hayashi M Matsuo I Imoto K Yamakawa Y Nakamura J Inazawa 2002 The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation Am J Hum Genet 71 637 645 12145744 10.1086/342208 1:CAS:528:DC%2BD38XmvFOhtbc%3D (Pubitemid 34970135)
23. Shaffer LG, Tommerup N (2005) An International System for Human Cytogenetic Nomenclature (2005). Karger, Basel
24. P Stankiewicz JR Lupski 2002 Genome architecture, rearrangements and genomic disorders Trends Genet 18 74 82 11818139 10.1016/S0168-9525(02)02592-1 1:CAS:528:DC%2BD38XovFantA%3D%3D (Pubitemid 34127806)
25. D Stevenson HG Laverty S Wenwieser M Douglas JB Wilson 2000 Mapping and expression analysis of the human CASK gene Mammalian Genome 11 934 937 11003712 10.1007/s003350010170 1:CAS:528:DC%2BD3cXnsleiurs%3D
26. PS Tarpey R Smith E Pleasance A Whibley S Edkins C Hardy S O'Meara C Latimer E Dicks A Menzies P Stephens M Blow C Greenman Y Xue C Tyler-Smith D Thompson K Gray J Andrews S Barthorpe G Buck J Cole R Dunmore D Jones M Maddison T Mironenko R Turner K Turrell J Varian S West S Widaa P Wray J Teague A Butler A Jenkinson M Jia D Richardson R Shepherd R Wooster MI Tejada F Martinez G Carvill R Goliath AP de Brouwer H van Bokhoven H van Esch J Chelly M Raynaud HH Ropers FE Abidi AK Srivastava J Cox Y Luo U Mallya J Moon J Parnau S Mohammed JL Tolmie C Shoubridge M Corbett A Gardner E Haan S Rujirabanjerd M Shaw L Vandeleur T Fullston DF Easton J Boyle M Partington A Hackett M Field C Skinner RE Stevenson M Bobrow G Turner CE Schwartz J Gecz FL Raymond PA Futreal MR Stratton 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation Nat Genet 41 535 543 19377476 10.1038/ng.367 1:CAS:528:DC%2BD1MXks12kt7g%3D