The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Journal of Medical Genetics

Volumn 48, Issue 11, 2011, Pages

  Chehadeh Djebbar, Salima El ^a   Faivre, Laurence ^a   Moncla, Anne ^b   Aral, Bernard ^a   Missirian, Chantal ^b   Popovici, Cornel ^b   Rump, Patrick ^c   Van Essen, Anthonie ^c   Frances, Anne Marie ^d   Gigot, Nadège ^a   Cusin, Veronica ^a   Masurel Paulet, Alice ^a   Gueneau, Lucie ^a   Payet, Muriel ^a   Ragon, Clémence ^a   Marle, Nathalie ^a   Mosca Boidron, Anne Laure ^a   Huet, Frédéric ^a   Balikova, Irina ^e   Teyssier, Jean Raymond ^a   Mugneret, Francine ^a   Thauvin Robinet, Christel ^a   Callier, Patrick ^a   more..

^a DIJON UNIVERSITY HOSPITAL   (France)

^b TIMONE HOSPITAL   (France)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^d Hôpital Font Pré   (France)

^e UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

COHEN SYNDROME; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENE SEGREGATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC SCREENING; HUMAN; LETTER; MENTAL DEFICIENCY; PRIORITY JOURNAL; RETINA DYSTROPHY; VPS13B GENE; FEMALE; GENETICS; MALE; NOTE; PHENOTYPE;

VESICULAR TRANSPORT PROTEIN;

FEMALE; HUMANS; MALE; PHENOTYPE; VESICULAR TRANSPORT PROTEINS;

EID: 81055140799     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2011.088948     Document Type: Letter

References (8)

1. Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Cohen syndrome diagnosis using whole genome arrays. J Med Genet 2011;48:136-40.
2. El Chehadeh S, Aral B, Gigot N, Thauvin-Robinet C, Donzel A, Delrue MA, Lacombe D, David A, Burglen L, Philip N, Moncla A, Cormier-Daire V, Rio M, Edery P, Verloes A, Bonneau D, Afenjar A, Jacquette A, Heron D, Sarda P, Pinson L, Doray B, Vigneron J, Leheup B, Frances-Guidet AM, Dienne G, Holder M, Masurel-Paulet A, Huet F, Teyssier JR, Faivre L. Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome. J Med Genet 2010;47:549-53.
3. Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GCM. Clayton-Smith J. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 2003;40:233-41.
4. Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Traskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. Delineation of Cohen syndrome following a large-scale genotypephenotype screen. Am J Hum Genet 2004;75:122-7.
5. Masurel-Paulet A, Andrieux J, Callier P, Cuisset JM, Le Caignec C, Holder M, Thauvin-Robinet C, Doray B, Flori E, Alex-Cordier MP, Beri M, Boute O, Delobel B, Dieux A, Vallee L, Jaillard S, Odent S, Isidor B, Beneteau C, Vigneron J, Bilan F, Gilbert-Dussardier B, Dubourg C, Labalme A, Bidon C, Gautier A, Pernes P, Pinoit JM, Huet F, Mugneret F, Aral B, Jonveaux P, Sanlaville D, Faivre L. Delineation of 15q13.3 microdeletions. Clin Genet 2010;78:149-61.
6. Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin AL, Fryns JP, Vermeesch JR. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 2009;30:E845-54.
7. Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet 2010;18:1133-40.
8. Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. Am J Med Genet 2008;146A:2221-6.