Cerebellar hypoplasia and Cohen syndrome: A confirmed association

American Journal of Medical Genetics, Part A

Volumn 152, Issue 9, 2010, Pages 2390-2393

  Waite, Alexander ^a   Somer, Mirja ^b   O'Driscoll, Mary ^a   Millen, Kathleen ^c   Manson, Forbes D C ^a   Chandler, Kate E ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b Department of Medical Genetics ^*  (Finland)

^c UNIVERSITY OF CHICAGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; CEREBELLUM VERMIS; CHILD; CLINICAL FEATURE; COHEN SYNDROME; COMPUTER ASSISTED TOMOGRAPHY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ELECTROPHYSIOLOGY; GENE; GENE MUTATION; HUMAN; LETTER; LOW BIRTH WEIGHT; MALE; MALFORMATION SYNDROME; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; VISUAL DISORDER; VPS13B GENE;

BRAIN; CEREBELLAR DISEASES; CEREBELLUM; CHILD; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; FINGERS; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MENTAL RETARDATION; MICROCEPHALY; MUSCLE HYPOTONIA; MYOPIA; OBESITY;

EID: 77956115508     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33569     Document Type: Letter

References (14)

1. Balikova I, Lehesjoki A-E, de Ravel TJL, Thienpont B, Chandler KE, Clayton-Smith J, Träskelin A-L, Fryns J-P, Vermeesch JR. 2009. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat 30:E845-E854.
2. Chandler KE, Kidd A, Al-Gazali L, Kolehmainen J, Lehesjoki AE, Black GC, Clayton-Smith J. 2003. Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome. J Med Genet 40:233-241.
3. Cohen MM, Hall BD, Smith DW, Graham CB, Lampert KJ. 1973. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr 83:280-284.
4. Gissen P, Maher ER. 2007. Cargos and genes: Insights into vesicular transport from inherited human disease. J Med Genet 44:545-555. (Pubitemid 47441762)
5. Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I, Utsch B, Hashmi S, Fazzi E, Omran H, O'Toole JF, Sayer JA, Hildebrandt F. 2007. Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome. J Med Genet 44:657-663. (Pubitemid 47584761)
6. Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, Tariverdian G, Chrzanowska KH, Krajewska-Walasek M, Rajab A, Giugliani R, Neumann TE, Eckl KM, Karbasiyan M, Reis A, Horn D. 2004. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Am J Hum Genet 75:138-145.
7. Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, Priolo M, Selicorni A, Milani D, Fischetto R, Celle ME, Grasso R, Dallapiccola B, Brancati F, Bordignon M, Tenconi R, Federico A, Mari F, Renieri A, Longo I. 2007. Clinical and molecular characterization of Italian patients affected by Cohen syndrome. J Hum Genet 52:1011-1017. (Pubitemid 50001762)
8. Kivitie-Kallio S, Norio R. 2001. Cohen syndrome: Essential features, natural history, and heterogeneity. Am J Med Genet 102:125-135.
9. Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, Perveen R, Kivitie-Kallio S, Norio R, Warburg M, Fryns JP, de la Chapelle A, Lehesjoki AE. 2003. Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle mediated sorting and intracellular protein transport. Am J Hum Genet 72:1359-1369.
10. Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, Träskelin AL, Waris L, Saarinen A, Khan J, Gross-Tsur V, Traboulsi EI, Warburg M, Fryns JP, Norio R, Black GC, Manson FD. 2004. Delineation of Cohen syndrome following a large-scale genotype phenotype screen. Am J Hum Genet 75:122-127.
11. Maquat LE. 2004. Nonsense-mediated mRNA decay: Splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 5:89-99.
12. Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, Noruzinia M, Sarda P, Ishihara J, Bodell A, Apse K, Walsh CA. 2004. Broader geographical spectrum of Cohen syndrome due to COH1mutations. J Med Genet 41:e87.
13. Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, Lacombe D, Verloes A, Chrzanowska KH, Maegawa GH, Chitayat D, Kotzot D, Huhle D, Meinecke P, Albrecht B, Mathijssen I, Leheup B, Raile K, Hennies HC, Horn D. 2006. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet 43:e22.
14. Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. 2004. Analysis of the human VPS13 gene family. Genomics 84:536-554. (Pubitemid 39037164)