Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

American Journal of Medical Genetics, Part A

Volumn 164, Issue 2, 2014, Pages 522-527

  Gueneau, Lucie ^a   Duplomb, Laurence ^a   Sarda, Pierre ^b   Hamel, Christian ^c,d   Aral, Bernard ^a,e   Chehadeh, Salima El ^a,e   Gigot, Nadège ^a,e   St Onge, Judith ^a,e   Callier, Patrick ^a,e   Thevenon, Julien ^a,e   Huet, Frédéric ^a   Carmignac, Virginie ^a   Droin, Nathalie ^f   Faivre, Laurence ^a,e   Thauvin Robinet, Christel ^a,e  

^a UNIVERSITÉ DE BOURGOGNE   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

^c GUI DE CHAULIAC HOSPITAL   (France)

^d Montpellier University Medical Center   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

^f INSERM   (France)

Author keywords

Cohen syndrome; Dose effect; Splice mutations; VPS13B

Indexed keywords

COMPLEMENTARY DNA; GRANULOCYTE COLONY STIMULATING FACTOR; MESSENGER RNA;

ADULT; ARTICLE; CASE REPORT; DNA SEQUENCE; ELECTRORETINOGRAPHY; FEMALE; GENE MUTATION; GINGIVA DISEASE; GINGIVITIS; GROWTH RETARDATION; HETEROZYGOSITY; HUMAN; INTRON; LUNG INFECTION; MICROCEPHALY; MUTATOR GENE; NEUTROPENIA; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; REAL TIME POLYMERASE CHAIN REACTION; RETINA DYSTROPHY; RETINA MACULA EDEMA; RETINOPATHY; RNA ANALYSIS; RNA SEQUENCE; SKIN INFECTION; VISUAL DISORDER; VPS13B GENE;

COHEN SYNDROME; DOSE EFFECT; SPLICE MUTATIONS; VPS13B;

ADULT; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; GENE ORDER; HUMANS; INTELLECTUAL DISABILITY; MUTATION; NEUTROPENIA; OBESITY; PEDIGREE; PHENOTYPE; RETINAL DISEASES; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 84892883226     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36300     Document Type: Article

References (19)

1. Ben Rebeh I, Moriniere M, Ayadi L, Benzina Z, Charfedine I, Feki J, Ayadi H, Ghorbel A, Baklouti F, Masmoudi S. 2010. Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness. Mol Vis 16:1898-1906.
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, Jr. 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. 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. 2010. 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 47:549-553.
5. 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.
6. 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.
7. Kivitie-Kallio S, Norio R. 2001. Cohen syndrome: Essential features, natural history, and heterogeneity. Am J Med Genet 102:125-135.
8. Kolehmainen J, Black GC, Saarinen A, Chandler K, Clayton-Smith J, Traskelin 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.
9. 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. 2004. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet 75:122-127.
10. Megarbane A, Slim R, Nurnberg G, Ebermann I, Nurnberg P, Bolz HJ. 2009. A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness. Eur J Hum Genet 17:1076-1079.
11. 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. 2010. High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet 18:1133-1140.
12. Rivera-Brugues N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Gohring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. 2011. Cohen syndrome diagnosis using whole genome arrays. J Med Genet 48:136-140.
13. Seifert W, Holder-Espinasse M, Kuhnisch J, Kahrizi K, Tzschach A, Garshasbi M, Najmabadi H, Walter Kuss A, Kress W, Laureys G, Loeys B, Brilstra E, Mancini GM, Dollfus H, Dahan K, Apse K, Hennies HC, Horn D. 2009. Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. Hum Mutat 30:E404-E420.
14. 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.
15. Seifert W, Kuhnisch J, Maritzen T, Horn D, Haucke V, Hennies HC. 2011. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem 286:37665-37675.
16. Taban M, Memoracion-Peralta DS, Wang H, Al-Gazali LI, Traboulsi EI. 2007. Cohen syndrome: Report of nine cases and review of the literature, with emphasis on ophthalmic features. J AAPOS 11:431-437.
17. Velayos-Baeza A, Vettori A, Copley RR, Dobson-Stone C, Monaco AP. 2004. Analysis of the human VPS13 gene family. Genomics 84:536-549.
18. Vezain M, Gerard B, Drunat S, Funalot B, Fehrenbach S, N'Guyen-Viet V, Vallat JM, Frebourg T, Tosi M, Martins A, Saugier-Veber P. 2011. A leaky splicing mutation affecting SMN1 exon 7 inclusion explains an unexpected mild case of spinal muscular atrophy. Hum Mutat 32:989-994.
19. Vissing J, Duno M, Schwartz M, Haller RG. 2009. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. Brain 132:1545-1552.