Disease relevance of EVC

• The haplotypes obtained from these polymorphisms will be useful to track the segregation of phenotypes in families with Ellis-van Creveld syndrome, Weyers acrodental dysostosis, LFSNHL and Wolfram syndrome type 1 [1].
• Ellis-van Creveld syndrome (EVC) is an autosomal recessive disorder characterized by disproportionate dwarfism, polydactyly, and congenital heart disease [2].
• Ellis-van Creveld syndrome (EvC, MIM 225500) is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly and dysplastic nails and teeth [3].
• There has been long-term speculation that asphyxiating thoracic dystrophy (ATD) and the short-rib polydactyly syndromes (SRP) represent the severe end of the EVC disease spectrum [4].
• Congenital heart defect (CHD), mainly atrioventricular canal defect (AVCD), is a cardinal finding in the Ellis-van Creveld (EVC) syndrome, but it occurs only occasionally in other SRP and OFD syndromes [5].

High impact information on EVC

• Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis [3].
• Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound [6].
• Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable [7].
• We have studied a four-generation family with features of Weyers acrofacial dysostosis, in which the proband has a more severe phenotype, resembling Ellis-van Creveld syndrome [8].
• Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus [8].

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

• NOS2 and 3 labelled the perivascular EVC and NOS3 the endothelial cells of the tubal vessels [10].
• These findings once again emphasize that derivatives of all three germ layers are involved in the Ellis-van Creveld syndrome [11].
• Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome) [12].
• Similar cytoplasmic inclusions have not been seen in other short rib-polydactyly syndromes, including SRP types 1 and 2, Jeune syndrome, and Ellis-van Creveld syndrome [13].
• Six knees in three patients with Ellis-van Creveld syndrome were treated with lateral soft tissue release and corrective osteotomy of the tibia at 10 years of age on average [14].

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

• The LD was significant between markers spaced about 208 kb apart in EVC, whereas no LD was found between a pair of markers located about 5 kb apart in CRMP1 [1].
• MMP-2, 9, 11 were also shown in distal EVC [10].
• Classical EVC syndrome comprises a tetrad of clinical manifestations of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac defects [17].
• Previously, it has been suggested that ARPKD, JATD, and Ellis-van Creveld syndrome (EvC) may arise from defects in differentiation in a common developmental pathway [18].
• Oral-facial-digital syndrome with acromelic short stature: a new variant--overlap with Ellis Van Creveld syndrome [19].

Analytical, diagnostic and therapeutic context of EVC

• Prediction equations using age, height and body surface area (BSA) as covariates were calculated for the subdivisions of lung volumes [TLC, IC, EVC, FRC, RV and RV/TLC (%)], separately for both sexes [20].
• The importance of prenatal diagnosis of EVC is stressed and a multidisciplinary approach for the management of these patients is highlighted [21].
• Dental, clinical, genetic and dermatoglyphic findings of an additional female case with Ellis-van Creveld syndrome (EVC) are presented and compared with those of the cases cited in the literature [22].
• The diagnosis of Ellis-van Creveld syndrome in this fetus is based on a positive family history (an affected sib) and shortness of long bones as well as hexadactyly diagnosed by prenatal ultrasonography [23].
• Increased first-trimester fetal nuchal translucency thickness in association with chondroectodermal dysplasia (Ellis-Van Creveld syndrome) [24].

References