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Gene Review

VCF  -  velocardiofacial syndrome

Homo sapiens

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Disease relevance of VCF


Psychiatry related information on VCF

  • This expression pattern is consistent with GSCL having either an indirect role in the development of neural crest-derived structures or a direct role in a subset of the phenotype observed in DGS/VCFS, such as learning disorders or psychiatric disease [6].
  • BACKGROUND: As children with velocardiofacial syndrome (VCFS) develop, they are at increased risk for psychopathology; one third will eventually develop schizophrenia [7].
  • METHODS: Twenty-eight children with VCFS and 29 age- and cognitively matched control subjects received a standardized assessment of childhood psychiatric disorders and behaviors measured by the Child Behavior Checklist (CBCL) [8].
  • Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study [9].
  • METHOD: Forty subjects of mean +/- SD age 11.0 +/- 5.0 years with VCFS were assessed for DSM-IV diagnoses using the Schedule for Affective Disorders and Schizophrenia for School-Aged Children, Present and Lifetime Version, and its extended ADHD module (K-SADS-P-ADHD) [9].

High impact information on VCF

  • We present preliminary data that velocardiofacial syndrome patients have similar chromosome deletions, a finding consistent with the hypothesis that these disorders represent part of a spectrum of abnormalities seen with monosomy for 22q11 [10].
  • Research into the chromosome 22 deletion (del22q11) syndrome, which encompasses DiGeorge and velocardiofacial syndrome, has taken a different path in recent years, using mouse models to circumvent the paucity of informative human material [11].
  • CONTEXT: Velocardiofacial syndrome is associated with interstitial deletions of chromosome 22q11, mild to borderline learning disability, characteristic dysmorphology, and a high prevalence of schizophrenia [12].
  • RESULTS: People with velocardiofacial syndrome and schizophrenia, compared with both controls and nonschizophrenic patients with velocardiofacial syndrome, had a significant (P<.05) reduction in volume of whole-brain (white + gray) matter and whole-brain white matter, and an increase in total and sulcal cerebrospinal fluid volume [12].
  • To assess the potential contribution of 22q11 genes to cognitive and psychiatric phenotypes, we determined the CNS expression of 32 mouse orthologs of 22q11 genes, primarily in the 1.5-Mb minimal critical region consistently deleted in VCFS [13].

Chemical compound and disease context of VCF

  • Immediately after amyl nitrite, earlier prolapse was due to an increase of VCF in the preprolapse period, with max VCF increasing from 2.15 +/- 0.27 to 3.06 +/- 0.40 circ/sec (P less than 0.001), there being no change in the end-diastolic diameter up to this time [5].
  • Comparison of stress ventriculograms before and after surgery in six patients with predominant AS (isoproterenol infusion, 0.3 microgram per kilogram of body weight per minute) showed an increase of EF, VCF, and MNSER and a decrease of PSWS [14].
  • 4 The effects of acebutolol differed in patients with ischaemic heart disease compared with normals in that LVEDP and EDV increased, mean VCF decreased and cardiac output was lowered more [15].
  • We feel that pathologists should be familiar with isotretinoin embryopathy and its pathogenesis in order to assist in differentiating this syndrome from other genetic syndromes that involve branchial arch defects, such as DiGeorge syndrome or velocardiofacial syndrome [16].

Biological context of VCF


Anatomical context of VCF

  • Because many of the tissues and structures affected in VCFS/DGS derive from the pharyngeal arches of the developing embryo, it is believed that haploinsufficiency of a gene(s) involved in embryonic development may be responsible for its etiology [19].
  • T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome [20].
  • We therefore investigated TCR Vbeta families in lymphocytes isolated from blood and thymic samples of seven patients with DGS and seven patients with VCFS, all with 22q11.2 deletion [20].
  • Contractibility of the myocardium was also examined by measurement of the ejection fraction (EF), percentage of the shortening of the left ventricle (%FS), and average velocity of the circumferential shortening of the muscular fibers (VCF) [21].
  • Visceral and subcutaneous fat (VCF and SCF) areas were determined by abdominal computed tomography (CT) scan [22].

Associations of VCF with chemical compounds

  • An acute increase in afterload produced by angiotensin in 8 pts (44% increase in peak stress) led to a 38% decrease in VCF, a 2.5% increase in max dP/dt, no significant change in (dP/dt)/C, a 26% reduction in (dP/dt)/CP, variable responses in peak VCE and Vmax, an 11% increase in VCEDP10 and minor changes in (dP/dt)/DP40 [23].
  • Compared to the normals, the adriamycin group had a fall in VCF and a rise in fractional shortening and ejection fraction, together with a rise in end-systolic diameter [24].
  • From 1980 to 1982, 79 patients (group B) received induction chemotherapy, Adriamycin, vincristine, cyclophosphamide, methotrexate, and 5-FU (AVCMF) and RT on a cyclical schedule and VCF maintenance [25].
  • After ouabain infusion, all indices of LV contractility: dP/dt, VCF, and ejection fraction rose significantly in the normal group, while LV filling pressure and end-diastolic volume remained unchanged [26].
  • In all, propranolol caused small reductions in heart rate and peak VCF [27].

Enzymatic interactions of VCF


Other interactions of VCF

  • Combined with our previously reported patients, deletions have been detected in 88% of DGS and 76% of VCFS patients [1].
  • A critical haploinsufficiency region for DGS/VCFS was defined on 10p (DGCR2) [18].
  • Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region [29].
  • The patient with the 10p deletion had facial features consistent with VCFS, plus sensorineural hearing loss, and renal anomalies [30].
  • One of these is its biochemical function in metabolism of catecholamine neurotransmitters; another is the microdeletion, on chromosome 22q11, that includes the COMT gene and causes velocardiofacial syndrome, a syndrome associated with a high rate of psychosis, particularly schizophrenia [31].

Analytical, diagnostic and therapeutic context of VCF


  1. Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis. Driscoll, D.A., Salvin, J., Sellinger, B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Emanuel, B.S. J. Med. Genet. (1993) [Pubmed]
  2. Molecular genetics of congenital heart disease. Gelb, B.D. Curr. Opin. Cardiol. (1997) [Pubmed]
  3. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects. Hou, J.W., Wang, J.K., Tsai, W.Y., Chou, C.C., Wang, T.R. J. Formos. Med. Assoc. (1997) [Pubmed]
  4. Phase-plane analysis of left ventricular chamber filling and midwall fiber lengthening in patients with left ventricular hypertrophy. Shimizu, G., Conrad, C.H., Gaasch, W.H. Circulation (1987) [Pubmed]
  5. The determinants of onset of mitral valve prolapse in the systolic click-late systolic murmur syndrome. Mathey, D.G., Decoodt, P.R., Allen, H.N., Swan, H.J. Circulation (1976) [Pubmed]
  6. Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain. Gottlieb, S., Hanes, S.D., Golden, J.A., Oakey, R.J., Budarf, M.L. Hum. Mol. Genet. (1998) [Pubmed]
  7. Parental origin of the deletion 22q11.2 and brain development in velocardiofacial syndrome: a preliminary study. Eliez, S., Antonarakis, S.E., Morris, M.A., Dahoun, S.P., Reiss, A.L. Arch. Gen. Psychiatry (2001) [Pubmed]
  8. Psychiatric disorders and behavioral problems in children with velocardiofacial syndrome: usefulness as phenotypic indicators of schizophrenia risk. Feinstein, C., Eliez, S., Blasey, C., Reiss, A.L. Biol. Psychiatry (2002) [Pubmed]
  9. Methylphenidate treatment for attention-deficit/hyperactivity disorder in children and adolescents with velocardiofacial syndrome: an open-label study. Gothelf, D., Gruber, R., Presburger, G., Dotan, I., Brand-Gothelf, A., Burg, M., Inbar, D., Steinberg, T., Frisch, A., Apter, A., Weizman, A. The Journal of clinical psychiatry. (2003) [Pubmed]
  10. Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Scambler, P.J., Kelly, D., Lindsay, E., Williamson, R., Goldberg, R., Shprintzen, R., Wilson, D.I., Goodship, J.A., Cross, I.E., Burn, J. Lancet (1992) [Pubmed]
  11. Chromosomal microdeletions: dissecting del22q11 syndrome. Lindsay, E.A. Nat. Rev. Genet. (2001) [Pubmed]
  12. Brain anatomy in adults with velocardiofacial syndrome with and without schizophrenia: preliminary results of a structural magnetic resonance imaging study. van Amelsvoort, T., Daly, E., Henry, J., Robertson, D., Ng, V., Owen, M., Murphy, K.C., Murphy, D.G. Arch. Gen. Psychiatry (2004) [Pubmed]
  13. A comprehensive analysis of 22q11 gene expression in the developing and adult brain. Maynard, T.M., Haskell, G.T., Peters, A.Z., Sikich, L., Lieberman, J.A., LaMantia, A.S. Proc. Natl. Acad. Sci. U.S.A. (2003) [Pubmed]
  14. Recovery from myocardial failure after aortic valve replacement. Schwarz, F., Flameng, W., Thormann, J., Sesto, M., Langebartels, F., Hehrlein, F., Schlepper, M. J. Thorac. Cardiovasc. Surg. (1978) [Pubmed]
  15. Acute effects of acebutolol on cardiovascular function in man. Dalal, J.J., Ross, P.J., Wong, K., Sheridan, D.J., Ruttley, M.S., Lewis, M.J., Henderson, A.H. British journal of clinical pharmacology. (1981) [Pubmed]
  16. Retinoic acid embryopathy: case report and review of literature. Coberly, S., Lammer, E., Alashari, M. Pediatric pathology & laboratory medicine : journal of the Society for Pediatric Pathology, affiliated with the International Paediatric Pathology Association. (1996) [Pubmed]
  17. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Sandrin-Garcia, P., Macedo, C., Martelli, L.R., Ramos, E.S., Guion-Almeida, M.L., Richieri-Costa, A., Passos, G.A. Clin. Genet. (2002) [Pubmed]
  18. An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14. Lichtner, P., König, R., Hasegawa, T., Van Esch, H., Meitinger, T., Schuffenhauer, S. J. Med. Genet. (2000) [Pubmed]
  19. Characterization and mutation analysis of goosecoid-like (GSCL), a homeodomain-containing gene that maps to the critical region for VCFS/DGS on 22q11. Funke, B., Saint-Jore, B., Puech, A., Sirotkin, H., Edelmann, L., Carlson, C., Raft, S., Pandita, R.K., Kucherlapati, R., Skoultchi, A., Morrow, B.E. Genomics (1997) [Pubmed]
  20. T cell receptor repertoire and function in patients with DiGeorge syndrome and velocardiofacial syndrome. Pierdominici, M., Marziali, M., Giovannetti, A., Oliva, A., Rosso, R., Marino, B., Digilio, M.C., Giannotti, A., Novelli, G., Dallapiccola, B., Aiuti, F., Pandolfi, F. Clin. Exp. Immunol. (2000) [Pubmed]
  21. Echocardiographic findings in children participating in swimming training. Medved, R., Fabecić-Sabadi, V., Medved, V. International journal of sports medicine. (1986) [Pubmed]
  22. Reciprocal association between visceral obesity and adiponectin: in healthy premenopausal women. Kwon, K., Jung, S.H., Choi, C., Park, S.H. International journal of cardiology. (2005) [Pubmed]
  23. Influence of acute changes in preload, afterload, contractile state and heart rate on ejection and isovolumic indices of myocardial contractility in man. Quinones, M.A., Gaasch, W.H., Alexander, J.K. Circulation (1976) [Pubmed]
  24. Direct and noninvasive evaluation of the cardiovascular response to isometric exercise. Perez-Gonzales, J.F., Schiller, N.B., Parmley, W.W. Circ. Res. (1981) [Pubmed]
  25. Primary chemotherapy in the treatment of inflammatory breast carcinoma: a study of 230 cases from the Institut Gustave-Roussy. Rouëssé, J., Friedman, S., Sarrazin, D., Mouriesse, H., Le Chevalier, T., Arriagada, R., Spielmann, M., Papacharalambous, A., May-Levin, F. J. Clin. Oncol. (1986) [Pubmed]
  26. Effects of rapid digitalization on total and regional myocardial performance in patients with coronary artery disease. Ferlinz, J., DelVicario, M., Aronow, W.S. Am. Heart J. (1978) [Pubmed]
  27. Effects of propranolol on left ventricular wall movement in patients with ischaemic heart disease. von Bibra, H., Gibson, D.G., Nityanandan, K. British heart journal. (1980) [Pubmed]
  28. The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome. Sperandeo, M.P., Borsani, G., Incerti, B., Zollo, M., Rossi, E., Zuffardi, O., Castaldo, P., Taglialatela, M., Andria, G., Sebastio, G. Genomics (1998) [Pubmed]
  29. Cloning, genomic organization, and chromosomal localization of human citrate transport protein to the DiGeorge/velocardiofacial syndrome minimal critical region. Goldmuntz, E., Wang, Z., Roe, B.A., Budarf, M.L. Genomics (1996) [Pubmed]
  30. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. Berend, S.A., Spikes, A.S., Kashork, C.D., Wu, J.M., Daw, S.C., Scambler, P.J., Shaffer, L.G. Am. J. Med. Genet. (2000) [Pubmed]
  31. A highly significant association between a COMT haplotype and schizophrenia. Shifman, S., Bronstein, M., Sternfeld, M., Pisanté-Shalom, A., Lev-Lehman, E., Weizman, A., Reznik, I., Spivak, B., Grisaru, N., Karp, L., Schiffer, R., Kotler, M., Strous, R.D., Swartz-Vanetik, M., Knobler, H.Y., Shinar, E., Beckmann, J.S., Yakir, B., Risch, N., Zak, N.B., Darvasi, A. Am. J. Hum. Genet. (2002) [Pubmed]
  32. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Ravnan, J.B., Chen, E., Golabi, M., Lebo, R.V. Am. J. Med. Genet. (1996) [Pubmed]
  33. Craniofacial morphology of conotruncal anomaly face syndrome. Kitano, I., Park, S., Kato, K., Nitta, N., Takato, T., Susami, T. The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association. (1997) [Pubmed]
  34. Prader Willi/Angelman and DiGeorge/velocardiofacial syndrome deletions: diagnosis by primed in situ labeling (PRINS). Tharapel, A.T., Kadandale, J.S., Martens, P.R., Wachtel, S.S., Wilroy, R.S. Am. J. Med. Genet. (2002) [Pubmed]
  35. Assessment of the cardiac effects of hemodialysis with systolic time intervals and echocardiography. Bornstein, A., Gaasch, W.H., Harrington, J. Am. J. Cardiol. (1983) [Pubmed]
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