GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome

American Journal of Human Genetics

Volumn 90, Issue 6, 2012, Pages 1088-1093

  Doherty, Dan ^a   Chudley, Albert E ^b   Coghlan, Gail ^b   Ishak, Gisele E ^a   Innes, A Micheil ^c   Lemire, Edmond G ^d   Rogers, R Curtis ^e   Mhanni, Aizeddin A ^b   Phelps, Ian G ^a   Jones, Steven J M ^f   Zhan, Shing H ^f   Fejes, Anthony P ^f   Shahin, Hashem ^g   Kanaan, Moien ^g   Akay, Hatice ^h   Tekin, Mustafa ^i,j   Triggs Raine, Barbara ^b   Zelinski, Teresa ^b  

^a UNIVERSITY OF WASHINGTON   (United States)

^b UNIVERSITY OF MANITOBA   (Canada)

^c UNIVERSITY OF CALGARY   (Canada)

^d UNIVERSITY OF SASKATCHEWAN   (Canada)

^e GREENWOOD GENETIC CENTER   (United States)

^f BRITISH COLUMBIA CANCER AGENCY   (Canada)

^g BETHLEHEM UNIVERSITY   (Palestine)

^h Memorial Hospital   (Turkey)

ⁱ UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^j ANKARA UNIVERSITY   (Turkey)

more..

Author keywords

[No Author keywords available]

Indexed keywords

G PROTEIN SIGNALING MODULATOR 2 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGENESIS; ARTICLE; BRAIN MALFORMATION; CELL DIVISION; CHILD; CHUDLEY MCCULLOUGH SYNDROME; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; CORPUS CALLOSUM; DNA DETERMINATION; DNA SEQUENCE; EAR MALFORMATION; FEMALE; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC VARIABILITY; GRAY MATTER; HEARING LOSS; HETEROTOPIA; HOMOZYGOSITY; HUMAN; MALE; MICROGYRIA; MITOSIS SPINDLE; NONSENSE MUTATION; PALPEBRAL FISSURE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SEIZURE;

ADOLESCENT; ADULT; AGENESIS OF CORPUS CALLOSUM; ARACHNOID CYSTS; BRAIN; BRAIN DISEASES; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENE DELETION; HEARING LOSS, SENSORINEURAL; HOMOZYGOTE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; SEQUENCE ANALYSIS, DNA;

EID: 84862128389     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.04.008     Document Type: Article

References (19)

1. A.E. Chudley, C. McCullough, and D.W. McCullough Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder Am. J. Med. Genet. 68 1997 350 356
2. Y.M.C. Hendriks, L.A.E.M. Laan, G.J. Vielvoye, and A. van Haeringen Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters Am. J. Med. Genet. 86 1999 183 186
3. E.G. Lemire, and G.P. Stoeber Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities Am. J. Med. Genet. 90 2000 127 130
4. K.O. Welch, M. Tekin, W.E. Nance, S.H. Blanton, K.S. Arnos, and A. Pandya Chudley-McCullough syndrome: expanded phenotype and review of the literature Am. J. Med. Genet. A. 119A 2003 71 76
5. E. Ostergaard, V.F. Pedersen, E.B. Skriver, and K. Brondum-Nielsen Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities Am. J. Med. Genet. A. 124A 2004 74 78
6. F. Matteucci, E. Tarantino, M.C. Bianchi, C. Cingolani, B. Fattori, A. Nacci, and F. Ursino Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome Am. J. Med. Genet. A. 140 2006 1183 1188
7. I. Alrashdi, R. Barker, and M.A. Patton Chudley-McCullough syndrome: another report and a brief review of the literature Clin. Dysmorphol. 20 2011 107 110
8. T. Kau, D. Veraguth, H. Schiegl, I. Scheer, and E. Boltshauser Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum Neuropediatrics 43 2012 44 47
9. T. Walsh, H. Shahin, T. Elkan-Miller, M.K. Lee, A.M. Thornton, W. Roeb, A. Abu Rayyan, S. Loulus, K.B. Avraham, M.-C. King, and M. Kanaan Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82 Am. J. Hum. Genet. 87 2010 90 94
10. K.O. Yariz, T. Walsh, H. Akay, D. Duman, A.C. Akkaynak, M.-C. King, and M. Tekin A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss Clin. Genet. 81 2012 289 293
11. A.A. Dror, and K.B. Avraham Hearing loss: mechanisms revealed by genetics and cell biology Annu. Rev. Genet. 43 2009 411 437
12. X. Morin, F. Jaouen, and P. Durbec Control of planar divisions by the G-protein regulator LGN maintains progenitors in the chick neuroepithelium Nat. Neurosci. 10 2007 1440 1448
13. D. Konno, G. Shioi, A. Shitamukai, A. Mori, H. Kiyonari, T. Miyata, and F. Matsuzaki Neuroepithelial progenitors undergo LGN-dependent planar divisions to maintain self-renewability during mammalian neurogenesis Nat. Cell Biol. 10 2008 93 101
14. G. Shioi, D. Konno, A. Shitamukai, and F. Matsuzaki Structural basis for self-renewal of neural progenitors in cortical neurogenesis Cereb. Cortex 19 Suppl 1 2009 i55 i61
15. S.E. Williams, S. Beronja, H.A. Pasolli, and E. Fuchs Asymmetric cell divisions promote Notch-dependent epidermal differentiation Nature 470 2011 353 358
16. J. Oliaro, V. Van Ham, F. Sacirbegovic, A. Pasam, Z. Bomzon, K. Pham, M.J. Ludford-Menting, N.J. Waterhouse, M. Bots, and E.D. Hawkins Asymmetric cell division of T cells upon antigen presentation uses multiple conserved mechanisms J. Immunol. 185 2010 367 375
17. X. Guo, and S. Gao Pins homolog LGN regulates meiotic spindle organization in mouse oocytes Cell Res. 19 2009 838 848
18. Z. Zheng, H. Zhu, Q. Wan, J. Liu, Z. Xiao, D.P. Siderovski, and Q. Du LGN regulates mitotic spindle orientation during epithelial morphogenesis J. Cell Biol. 189 2010 275 288
19. N. Sans, P.Y. Wang, Q. Du, R.S. Petralia, Y.X. Wang, S. Nakka, J.B. Blumer, I.G. Macara, and R.J. Wenthold mPins modulates PSD-95 and SAP102 trafficking and influences NMDA receptor surface expression Nat. Cell Biol. 7 2005 1179 1190