2017 / 04

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DOI: 10.24075/brsmu.2017-04-06

CLINICAL CASE

Cohen syndrome in family members: a case report

Levchenko OA1, Zinchenko RA2, Lavrov AV
About authors

1 Laboratory of Mutagenesis,
Research Centre for Medical Genetics, Moscow

2 Department of Molecular and Cellular Genetics, Biomedical Faculty,
Pirogov Russian National Research Medical University, Moscow

Correspondence should be addressed: Alexander Lavrov
ul. Moskvorechie, d. 1, Moscow, Russia, 115478; moc.liamg@vorvalvrednaxela

About paper

Contribution of the authors to this work: Levchenko OA — analysis of literature, sequencing, data analysis and interpretation, drafting of a manuscript; Zinchenko RA — research planning, collection and description of clinical material, editing of a manuscript; Lavrov AV — research planning and realization, analysis of results, drafting and editing of a manuscript.

Received: 2017-08-02 Accepted: 2017-08-15 Published online: 2017-10-30
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  1. Cohen MM Jr, Hall BD, Smith DW, Graham CB, Lampert KJ. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies. J Pediatr. 1973 Aug; 83 (2): 280–4.
  2. Tahvanainen E, Norio R, Karila E, Ranta S, Weissenbach J, Sistonen P, et al. Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis. Nat Genet. 1994 Jun; 7 (2): 201–4.
  3. Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Träskelin AL, et al. 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. 2003 Jun; 72 (6): 1359–69.
  4. Kolehmainen J, Wilkinson R, Lehesjoki AE, Chandler K, Kivitie-Kallio S, Clayton-Smith J, et al. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet. 2004 Jul; 75 (1): 122–7.
  5. Balikova I, Lehesjoki AE, de Ravel TJ, Thienpont B, Chandler KE, Clayton-Smith J, et al. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome. Hum Mutat. 2009 Sep; 30 (9): E845–54.
  6. Hennies HC, Rauch A, Seifert W, Schumi C, Moser E, Al-Taji E, et al. Allelic Heterogeneity in the COH1 Gene Explains Clinical Variability in Cohen Syndrome. 2004 Jul; 75 (1): 138–45.
  7. Katzaki E, Pescucci C, Uliana V, Papa FT, Ariani F, Meloni I, et al. Clinical and molecular characterization of Italian patients affected by Cohen syndrome. J Hum Genet. 2007; 52 (12): 1011–7.
  8. Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, et al. Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population. Am J Med Genet A. 2008 Sep 1; 146A (17): 2221–6.
  9. Peeters K, Willekens D, Steyaert J, Fryns JP. The long term evolution of 6 adult patients with Cohen syndrome and their behavioral characteristics. Genet Couns. 2008; 19 (1): 1–14.
  10. Mochida GH, Rajab A, Eyaid W, Lu A, Al-Nouri D, Kosaki K, et al. Broader geographical spectrum of Cohen syndrome due to COH1 mutations. J Med Genet. 2004 Jun; 41 (6): e87.
  11. Taban M, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi EI. Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS. 2007 Oct; 11 (5): 431–7.
  12. Kondo I, Shimizu A, Asakawa S, Miyamoto K, Yamagata H, Tabara Y, et al. COH1 analysis and linkage study in two Japanese families with Cohen syndrome. Clin Genet. 2005 Mar; 67 (3): 270–2.
  13. Falk MJ, Feiler HS, Neilson DE, Maxwell K, Lee JV, Segall SK, et al. Cohen syndrome in the Ohio Amish. Am J Med Genet A. 2004 Jul 1; 128A (1): 23–8.
  14. Rauch A, Hoyer J, Guth S, Zweier C, Kraus C, Becker C, et al. Diagnostic Yield of Various Genetic Approaches in Patients with Unexplained Developmental Delay or Mental Retardation. Am J Med Genet A. 2006 Oct 1; 140A (18): 2063–74.
  15. Yang Y, Muzny DM, Xia F, Niu Z, Person R, Ding Y, et al. Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing. JAMA. 2014 Nov 12; 312 (18): 1870–9.
  16. Seifert W, Holder-Espinasse M, Spranger S, Hoeltzenbein M, Rossier E, Dollfus H, et al. Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. J Med Genet. 2006 May; 43 (5): e22.
  17. Wang H, Falk MJ, Wensel C, Traboulsi EI. Cohen syndrome. In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, et al, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2017. 2006 Aug 29 [updated 2016 Jul 21].
  18. Norio R, Raitta C. Are the Mirhosseini-Holmes-Walton Syndrome and the Cohen Syndrome Identical? Am J Med Genet. 1986 Oct; 25 (2): 397–8.
  19. Horn D, Krebsová A, Kunze J, Reis A. Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: Redefining a clinical entity. Am J Med Genet. 2000 Jun 5; 92 (4): 285–92.
  20. Karaca E, Harel T, Pehlivan D, Jhangiani SN, Gambin T, Coban Akdemir Z, et al. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. Neuron. 2015 Nov 4; 88 (3): 499–513.
  21. Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, et al. Using whole-exome sequencing to identify inherited causes of autism. Neuron. 2013 Jan 23; 77 (2): 259–73.
  22. Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011 Oct 28; 286 (43): 37665–75.
  23. Seifert W, Kühnisch J, Maritzen T, Lommatzsch S, Hennies HC, Bachmann S, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015 Feb 6; 290 (6): 3349–58.
  24. El Chehadeh-Djebbar S, Faivre L, Moncla A, Aral B, Missirian C, Popovici C, et al. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome. J Med Genet. 2011 Nov; 48 (11): e1.
  25. Lavrov AV, Bannikov AV, Chausheva AI, Dadali EL. [Genetics of mental retardation]. Rossiyskiy vestnik perinatologii i pediatrii. 2016; 61 (6): 13–20. Russian.
  26. Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, et al. RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. Science. 2015 Jan 9; 347 (6218): 1254806.
  27. El Chehadeh-Djebbar S, Blair E, Holder-Espinasse M, Moncla A, Frances AM, Rio M, et al. Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis. Eur J Hum Genet. 2013 Jul; 21 (7): 736–42.