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Gene Review

EVC  -  Ellis van Creveld syndrome

Homo sapiens

Synonyms: DWF-1, EVC1, EVCL, Ellis-van Creveld syndrome protein
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Disease relevance of EVC


High impact information on EVC


Biological context of EVC

  • Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes [1].
  • We genotyped eight different single nucleotide polymorphisms (SNPs) in the CRMP1 and EVC genes in 90 control individuals of diverse ethnicity [1].
  • This rare disorder is found with increased frequency among the Old Order Amish community in Lancaster County, Pennsylvania. We have used linkage analysis to localize the gene responsible for the EVC phenotype in nine interrelated Amish pedigrees and three unrelated families from Mexico, Ecuador, and Brazil [2].
  • Ellis van Creveld syndrome (EVC) is an autosomal recessive disorder which has previously been mapped to human chromosome 4p16 [9].
  • Nonetheless, direct DNA sequencing of both exons of the MSX1 gene in five affected individuals segregating with the EVC phenotype, as well as those of two obligate carriers, revealed no mutations in the coding region of the gene [9].

Anatomical context of EVC


Associations of EVC with chemical compounds

  • In the MCh group, FVC (4.16+/-0.94 L) and EVC (4.19+/-0.89 L) were the largest volumes, although only the difference between FVC and FIVCfe (3.76+/-0.81 L) reached statistical significance [15].
  • In the course of our analysis of genomic sequence from the human chromosome 4p16.1 region harboring both the Wolfram and Ellis van Creveld syndrome genes we have identified a sequence with high homology (98% at the amino acid level) to the rat cDNA coding for the protein phosphatase 2A BRgamma (PP2ABRgamma) regulatory subunit [16].

Other interactions of EVC


Analytical, diagnostic and therapeutic context of EVC


  1. Haplotype and linkage disequilibrium analysis of the CRMP1 and EVC genes. Sivakumaran, T.A., Lesperance, M.M. Int. J. Mol. Med. (2004) [Pubmed]
  2. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Polymeropoulos, M.H., Ide, S.E., Wright, M., Goodship, J., Weissenbach, J., Pyeritz, R.E., Da Silva, E.O., Ortiz De Luna, R.I., Francomano, C.A. Genomics (1996) [Pubmed]
  3. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Ruiz-Perez, V.L., Ide, S.E., Strom, T.M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M.H., Goodship, J. Nat. Genet. (2000) [Pubmed]
  4. Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes. Krakow, D., Salazar, D., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. Eur. J. Hum. Genet. (2000) [Pubmed]
  5. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. Digilio, M.C., Marino, B., Ammirati, A., Borzaga, U., Giannotti, A., Dallapiccola, B. Am. J. Med. Genet. (1999) [Pubmed]
  6. Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound. Mahoney, M.J., Hobbins, J.C. N. Engl. J. Med. (1977) [Pubmed]
  7. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Ruiz-Perez, V.L., Tompson, S.W., Blair, H.J., Espinoza-Valdez, C., Lapunzina, P., Silva, E.O., Hamel, B., Gibbs, J.L., Young, I.D., Wright, M.J., Goodship, J.A. Am. J. Hum. Genet. (2003) [Pubmed]
  8. Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus. Howard, T.D., Guttmacher, A.E., McKinnon, W., Sharma, M., McKusick, V.A., Jabs, E.W. Am. J. Hum. Genet. (1997) [Pubmed]
  9. Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. Ide, S.E., Ortiz de Luna, R.I., Francomano, C.A., Polymeropoulos, M.H. Hum. Genet. (1996) [Pubmed]
  10. Immunohistochemistry of adhesion molecules,metalloproteinases and no-synthases in extravillous trophoblast of tubal pregnancy. Dubernard, G., Galtier-Fougairolles, M., Cortez, A., Uzan, S., Challier, J.C. Cell. Mol. Biol. (Noisy-le-grand) (2005) [Pubmed]
  11. Chondroectodermal dysplasia (Ellis--van Creveld syndrome) with dysplasia of renal medulla and bile ducts. Böhm, N., Fukuda, M., Staudt, R., Helwig, H. Histopathology (1978) [Pubmed]
  12. Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome). Qureshi, F., Jacques, S.M., Evans, M.I., Johnson, M.P., Isada, N.B., Yang, S.S. Am. J. Med. Genet. (1993) [Pubmed]
  13. Short rib-polydactyly syndrome, type 3 with chondrocytic inclusions: report of a case and review of the literature. Yang, S.S., Lin, C.S., Al Saadi, A., Nangia, B.S., Bernstein, J. Am. J. Med. Genet. (1980) [Pubmed]
  14. Correction of knee deformity in patients with Ellis-van Creveld syndrome. Shibata, T., Kawabata, H., Yasui, N., Nakahara, H., Hirabayashi, S., Nakase, T., Ochi, T. Journal of pediatric orthopaedics. Part B / European Paediatric Orthopaedic Society, Pediatric Orthopaedic Society of North America. (1999) [Pubmed]
  15. Vital capacities in acute and chronic airway obstruction: dependence on flow and volume histories. Brusasco, V., Pellegrino, R., Rodarte, J.R. Eur. Respir. J. (1997) [Pubmed]
  16. Genomic structure and localization of the human protein phosphatase 2A BRgamma regulatory subunit. Torres, R., Ide, S.E., Dehejia, A., Baras, A., Polymeropoulos, M.H. DNA Res. (1999) [Pubmed]
  17. Ellis-van Creveld syndrome and dyserythropoiesis. Scurlock, D., Ostler, D., Nguyen, A., Wahed, A. Arch. Pathol. Lab. Med. (2005) [Pubmed]
  18. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. Johnson, C.A., Gissen, P., Sergi, C. J. Med. Genet. (2003) [Pubmed]
  19. Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome. Phadke, S.R., Pahi, J., Pandey, A., Agarwal, S.S. Clin. Dysmorphol. (1999) [Pubmed]
  20. Prediction equations for plethysmographic lung volumes. Roca, J., Burgos, F., Barberà, J.A., Sunyer, J., Rodriguez-Roisin, R., Castellsagué, J., Sanchis, J., Antóo, J.M., Casan, P., Clausen, J.L. Respiratory medicine. (1998) [Pubmed]
  21. Ellis-van Creveld Syndrome: a report of two cases. Arya, L., Mendiratta, V., Sharma, R.C., Solanki, R.S. Pediatric dermatology. (2001) [Pubmed]
  22. Ellis-van Creveld syndrome: dental, clinical, genetic and dermatoglyphic findings of a case. Atasu, M., Biren, S. The Journal of clinical pediatric dentistry. (2000) [Pubmed]
  23. Ellis-van Creveld syndrome: examination at 15 weeks' gestation. Guschmann, M., Horn, D., Gasiorek-Wiens, A., Urban, M., Kunze, J., Vogel, M. Prenat. Diagn. (1999) [Pubmed]
  24. Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome). Venkat-Raman, N., Sebire, N.J., Murphy, K.W., Carvalho, J.S., Hall, C.M. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2005) [Pubmed]
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