Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Human Molecular Genetics

Volumn 18, Issue 3, 2009, Pages 517-524

  Zeevaert, Renate ^a   Foulquier, François ^b,c   Dimitrov, Boyan ^b   Reynders, Ellen ^b,d   Van Damme Lombaerts, Rita ^a   Simeonov, Emil ^e   Annaert, Wim ^b,d   Matthijs, Gert ^b   Jaeken, Jaak ^a  

^a UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITÉ DES SCIENCES ET TECHNOLOGIES DE LILLE   (France)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

Author keywords

[No Author keywords available]

Indexed keywords

BREFELDIN A; CONSERVED OLIGOMERIC GOLGI COMPLEX SUBUNIT 1; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CEREBROCOSTOMANDIBULAR LIKE SYNDROME; CEREBROFACIOTHORACIC DYSPLASIA; CHILD; DYSPLASIA; EXON; FIBROBLAST; GENE MUTATION; GENETIC CONSERVATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; INFANT; JARCHO LEVIN SYNDROME; MALE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; PROTEIN QUATERNARY STRUCTURE; PROTEIN TRANSPORT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; STOP CODON;

ADAPTOR PROTEINS, VESICULAR TRANSPORT; ADOLESCENT; BASE SEQUENCE; BREFELDIN A; CELLS, CULTURED; FIBROBLASTS; FRAMESHIFT MUTATION; HUMANS; INTRONS; MALE; MENTAL RETARDATION; MOLECULAR SEQUENCE DATA; POINT MUTATION;

EID: 58749088569     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn379     Document Type: Article

References (45)

1. Foulquier, F., Vasile, E., Schollen, E., Callewaert, N., Raemaekers, T., Quelhas, D., Jaeken, J., Mills, P., Winchester, B., Krieger, M., Annaert, W. and Matthijs, G. (2006) Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc Natl Acad Sci USA, 103 3764-3769.
2. Tachibana, K., Yamamoto, Y., Osaki, E. and Kuroki, Y. (1980) Cerebro-costo-mandibular syndrome. Hum. Genet., 54, 283-286.
3. Hennekam, R., Beemer, F., Huijbers, W., Hustinx, P. and Sprang, F. (1985) The cerebro-costo-mandibular syndrome: Third report of familial occurrence. Clin. Genet., 28, 118-121.
4. Megier, P., Ayeva-Derman, M., Esperandieu, O., Aubry, M.-C., Couly, G. and Desroches, A. (1998) Prenatal ultrasonographic diagnosis of the cerebro-costo-mandibular syndrome: Case report and review of the literature. Prenat. Diagn., 18, 1294-1299.
5. Steet, R. and Kornfeld, R. (2006) COG-7-deficient human fibroblasts exhibit altered recycling of Golgi proteins. Mol. Biol. Cell, 17, 2312-2321.
6. McNicholl, B., Egan-Mitchell, B., Murray, J., Doyle, J., Kennedy, J. and Crome, L. (1970) Cerebro-costo-mandibular syndrome. A new familial developmental disorder. Arch. Dis. Child., 45, 421-424.
7. Smith, D., Theiler, K. and Schachenmann, G. (1966) Rib-gap defect with micrognathia, malformed tracheal cartilages, and redundant skin: A new pattern of defective development. J. Pediatr., 69, 799-803.
8. Hennekam, R. and Goldschmeding, R. (1998) Complete absence of rib ossification, micrognathia and ear anomalies: Extreme expression of cerebro-costo-mandibular syndrome. Eur. J. Hum. Genet., 6, 71-74.
9. Kuhn, J.P., Lee, S.B., Jockin, H. and Wieder, W. (1975) Cerebro-costo-mandibular syndrome: A case with cardiac anomaly. J. Pediatr., 86, 243-244.
10. Miller, K.E., Allen, R.P. and Davis, W.S. (1972) Rib gap defects with micrognathia. The cerebro-costo-mandibular syndrome - a Pierre-Robin like syndrome with rib dysplasia. Am. J. Roentgenol. Radium Ther. Nucl. Med., 114, 253-256.
11. Silverman, F.N., Strefling, A.M., Stevenson, D.K. and Lazarus, J. (1980) Cerebro-costo-mandibular syndrome. J. Pediatr., 97, 406-416.
12. Plötz, F.B., van Essen, A.J., Bosschaart, A.N. and Bos, A.P. (1996) Cerebro-costo-mandibular syndrome. Am. J. Med. Genet., 62, 286-292.
13. Williams, H. and Shashikant, M. (1976) Cerebro-costo-mandibular syndrome: Long term follow-up of a patient and review of the literature. Am. J. Roentgenol., 126, 1223-1228.
14. Doyle, J. and McNicholl, B. (1969) The skeletal defects of the cerebro-costo-mandibular syndrome. J. Anat., 105, 214.
15. Clarke, E. and Nguyen, V. (1985) Cerebro-costo-mandibular syndrome with consanguinity. Pediatr. Radiol., 15, 264-266.
16. Gürgey, A., Cagler, M., Topcu, M. and Kutluk, T. (1985) A case of the crebro-costo-mandibular syndrome. Turk. J. Pediatr., 27, 109-112.
17. Burton, E. and Oestreich, A. (1988) Cerebro-costo-mandibular syndrome with stippled epiphysis and cystic fibrosis. Pediatr. Radiol., 18, 365-367.
18. Leroy, J.G., Devos, E.A., Vanden Bulcke, L.J. and Robbe, N.S. (1981) Cerebro-costo-mandibular syndrome with autosomal dominant inheritance. J. Pediatr., 99, 441-443.
19. Wilckox, B.K. and Tatum, S.A. (2004) Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence. Am. J. Otolaryngol., 25 258-262.
20. Fauré, C., Valleur, D. and Vital, L. (1978) Le syndrome cérébro-costo-mandibulaire. Trois nouvelles observations. Nouv. Presse Med., 7, 445-448.
21. Kirk, E.P., Arbuckle, S., Ramm, P.L. and Adès, L.C. (1999) Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: Cerebro-costo-mandibular syndrome or a new syndrome? Am. J. Med. Genet., 84, 120-124.
22. James, P. and Aftimos, S. (2003) Familial cerebro-costo-mandibular syndrome: A case with unusual prenatal findings and review. Clin. Dysmorphol., 12, 63-68.
23. Flodmark, P. and Wattsgard, C. (2000) Cerebro-costo-mandibular syndrome. Pediatr. Radiol., 31, 36-37.
24. Harris, S. and Waters, M.G. (1996) Localization of a yeast early Golgi mannosyltransferase, Och1p, involves retrograde transport. J. Cell Biol., 132, 985-998.
25. Merlob, P., Schonfeld, A., Grunebaum, M., Mor, N. and Reisner, S.H. (1987) Autosomal dominant cerebro-costo-mandibular syndrome: ultrasonographic and clinical findings. Am. J. Med. Genet., 26 195-202.
26. Morin, G., Gekas, J., Naepels, P., Goudry, J., Devauchelle, B., Testelin, S., Sevestre, H., Thépôt, F. and Mathieu, M. (2001) Cerebro-costo-mandibular syndrome in a father and a female fetus: Early prenatal ultrasonographic diagnosis and autosomal dominant transmission. Prenat. Diagn., 21, 890-893.
27. Schrander-Stumpel, C., Van Der Meer, S., De Die-Smulders, C., Meinecke, P., Rupperecht, E., Maroteaux, P., Schrander, J. and Fryns, J. (1996) Cerebro-costo-mandibular syndrome: A follow-up study with 6 patients. Genet. Couns., 7, 71-72.
28. Van den Ende, J., Schrander-Stumpel, C. and Rupprechts, E. (1998) The cerebro-costo-mandibular syndrome: Seven patients and review of the literature. Clin. Dysmorphol., 7, 87-95.
29. Drossou-Agakidou, V., Andreaou, A., Soubassi-Griva, V. and Pandouraki, M. (1991) Cerebrocostomandibular syndrome in four sibs, two pairs of twins. J. Med. Genet., 28, 704-707.
30. Ozkinay, F., Ozgür, C., Gündüz, C., Cankaya, T. and Ozkinay, C. (2001) Cerebro-costo-mandibular syndrome: A case report. Pediatr. Int., 43, 522-524.
31. Trautman, M.S., Schelley, S.L. and Stevenson, D.K. (1985) Cerebro-costo-mandibular syndrome: A familial case consistent with autosmal recessive inheritance. J. Pediatr., 107, 990-991.
32. Rimoin, D.L., Fletcher, B.D. and McKusick, V.A. (1968) Spondylocostal dysplasia. Am. J. Med., 45, 948-953.
33. Pascual-Castroviejo, I., Santoyala, J.M., Lopez-Martin, V., Rodriguez-Costa, T., Tendero, A. and Mulas, F. (1975) Cerebro-facio-thoracic dysplasia: Report of three cases. Dev. Med. Child. Neurol., 17, 343-351.
34. Philip, N., Guala, A., Moncla, A., Monlouis, M., Aymé, S. and Giraud, F. (1992) Cerebrofaciothoracic dysplasia: A new family. J. Med. Genet., 29, 497-499.
35. Guion-Almeida, M.L., Richieri-Costa, A., Saavedra, D. and Cohen, M.M. (1996) Cerebrofaciothoracic syndrome. Am. J. Med. Genet., 61 152-153.
36. Cilliers, D., Alanay, Y., Boduroglu, K., Utine, E., Tunçbilik, E. and Clayton-Smith, J. (2007) Cerebro-facio-thoracic dysplasia: Expanding the phenotype. Clin. Dysmorphol., 16, 121-125.
37. Zeevaert, R., Foulquier, F., Jaeken, J. and Matthijs, G. (2008) Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation. Mol. Genet. Metab., 93, 261-278.
38. Spaapen, L.J.M., Bakker, J.A., Van Der Meer, S.B., Sijstermans, H.J., Steet, R.A., Wevers, R.A. and Jaeken, J. (2005) Clinical and biochemical presentation of siblings with COG7 deficiency, a lethal multiple O- and N-glycosylation disorder. J. Inherit. Metab. Dis., 28, 707-714.
39. Wu, X., Steet, R.A., Bohorov, O., Bakker, J., Newell, J., Krieger, M., Spaapen, L., Kornfeld, S. and Freeze, H.H. (2004) Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat. Med., 10, 518-523.
40. Carchon, H.A., Chevigné, R., Falmagne, J.B. and Jaeken, J. (2004) Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin. Clin. Chem., 50, 101-111.
41. Wopereis, S., Grünewald, S., Morava, E., Penzien, J.M., Briones, P., García-Silva, M.T., Demacker, P.N., Huijben, K.M. and Wevers, R.A. (2003) Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin. Chem., 49, 1839-1845.
42. Ciucanu, I. and Kerck, F. (1984) A simple and rapid method for the permethylation of carbohydrates. Carbohydr. Res., 131, 209-217.
43. Sturiale, L., Barone, R. and Fiumura, A. (2005) Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosaemia. Glycobiology, 15, 1268-1276.
44. Livak, K.J. and Schmittgen, T.D. (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2-DDCt method. Methods, 25, 402-408.
45. Morava, E., Zeevaert, R., Korsch, E., Huijben, K.M., Wopereis, S., Matthijs, G., Keymolen, K., Lefeber, D., De Meirleir, L. and Wevers, R.A. (2007) A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur. J. Hum. Genet., 15, 638-645.