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he whole exome sequencing (WES) in this family revealed two homozygous variants in EVC2 (c.30dupC; p.Thr11Hisfs*45) and TMC1 (show TMC1 Proteins) (c.1696-1G>A) genes. In family B, WES revealed novel compound heterozygous variants (p.Ser307Pro, c.2894+3A>G) in the EVC (show EVC Proteins) gene.
we detected two novel nonsense mutations and a partial deletion of EVC (show EVC Proteins)/EVC2 in two Vietnamese families with EvC (show EVC Proteins). Moreover, we found in one family a missense mutation of EFCAB7, a possible modifier gene in EvC (show EVC Proteins) and its related disorders.
sequence analysis identified a novel nonsense mutation (p.Trp234*) in exon 8 of the EVC2 gene and 15 bp duplication in exon 14 of the EVC (show EVC Proteins) gene in the two families..
Sequencing of both EVC (show EVC Proteins) and EVC2 identified two novel heterozygous splice site mutations c.384+5G>C in intron 3 and c.1465-1G>A in intron 10 in EVC (show EVC Proteins), which were inherited from mother and father, respectively.
Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS (show MKS1 Proteins) disease genes-C5orf42, EVC2 and SEC8 (show EXOC4 Proteins) (also known as EXOC4 (show EXOC4 Proteins)), which encodes an exocyst protein with an established role in ciliogenesis
we identified 2 independent mutations in EVC2 gene in patients with WAD, including one novel.
Identification of a novel genotype in EvC (show EVC Proteins) will provide clues to phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC (show EVC Proteins) but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling
Emerging molecular and developmental studies suggest that EVC (show EVC Proteins) and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes.
In this study, two novel heterozygous EVC2 mutations, IVS 5-2A > G and c.2653C > T (Arg88 5X), were identified in the patient; the IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father
Molecular analysis of the EVC (show EVC Proteins) and EVC2 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, thoracic narrowness, short limbs and endocardial cushion defects.
By comparing neural crest-specific Evc2 mutants with control mice, study demonstrated that the abnormalities within the mid-facial regions are not accounted for by the Evc2 mutation within these regions.
Loss of EVC2 is associated with facial bone growth defect.
Mutations in Evc2 affect dental mesenchymal stem cell homeostasis, which further leads to hypomorphic enamel formation in mice.
Elevation of FGF signaling, mainly due to increased Fgf18 (show FGF18 Proteins) expression upon inactivation of Evc2 in the perichondrium, critically contributes to the pathogenesis of limb dwarfism. The limb dwarfism phenotype is partially rescued by inactivation of one allele of Fgf18 (show FGF18 Proteins) in the Evc2 mutant mice
This study identifies the types of Evc2-expressing cells in craniofacial tissues. Consistent with the expression pattern, abnormal craniofacial bone morphology was found in the Evc2 KO mice, suggesting that EVC2 may be important during craniofacial growth and development.
data reveal that the Hh pathway involves Evc (show EVC Proteins)/Evc2-dependent modulations that are necessary for normal endochondral bone formation
it is proposed that Hedgehog (show SHH Proteins) activates Smo by inducing its phosphorylation, which recruits Evc (show EVC Proteins)/Evc2 to activate Gli (show GLI1 Proteins) proteins by antagonizing Sufu (show SUFUH Proteins) in the primary cilia
Mutant Evc2 proteins that localize in cilia but are displaced from the EvC (show EVC Proteins) zone are dominant inhibitors of Hh signaling.
We demonstrate for the first time that Evc2 is a positive regulator of the Hh signalling pathway and that it is located at the basal body of primary cilia. Evc2 is present in the cell nucleus suggesting movement of Evc2 between the cilium and nucleus.
The expression of a Weyer variant, but not the expression of a truncated protein that mimics an Ellis-van Creveld syndrome (show EVC Proteins) mutation, impairs Hedgehog (show SHH Proteins) signal transduction in NIH 3T3 cells in keeping with its dominant effect.
The presence of a 2 bp deletion in exon 19 (c.2993_2994ACdel) led to a premature stop codon in the coding sequence of bovine EVC2, and was concordant with the recessive pattern of inheritance in affected and carrier animals.
This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants.
Ellis van Creveld syndrome 2
, Ellis van Creveld syndrome 2 (limbin)
, ellis-van Creveld syndrome protein 2
, Ellis van Creveld syndrome 2 homolog