Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

Pérez-Andreu, Joaquín; Ray, V.; Arribas, José María; Sánchez, Sergio Juan

doi:10.11622/smedj.2015097

Cited by 2 publications

(3 citation statements)

References 10 publications

(16 reference statements)

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“…Approximately 50% of the affected individuals die early in infancy due to cardiorespiratory problems (Nguyen et al, 2016;Pérez-Andreu et al, 2015).Mutations in the EVC and EVC2 genes are the most common cause of this syndrome (Tompson et al, 2006). The majority of the mutations introduces a premature termination codon and are predicted to cause truncation and resultant loss-of-function of protein (Aziz et al, 2016;Dasdia et al, 2013;Kalsoom et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

“…Congenital heart defects or cardiovascular malformations have been found to occur in 60% of individuals. Approximately 50% of the affected individuals die early in infancy due to cardiorespiratory problems (Nguyen et al, 2016; Pérez‐Andreu et al, 2015). Mutations in the EVC and EVC2 genes are the most common cause of this syndrome (Tompson et al, 2006).…”

Section: Introductionmentioning

confidence: 99%

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An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Zaka

Shahzad

Rao

et al. 2021

American J of Med Genetics Pt A

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Ellis-van Creveld (EvC) syndrome is an autosomal recessive disease, characterized by ectodermal, skeletal, and cardiac anomalies. We report intrafamilial phenotypic variability in three new EvC syndrome cases. Affected males in this study showed only ectodermal abnormalities, whereas an affected female showed the classical presentation of EvC Syndrome, including bilateral postaxial polydactyly of hands and feet, and congenital heart defects. Whole exome sequencing was performed to identify the causative variant, followed by validation and segregation analysis using Sanger sequencing. A homozygous deletion variant (c.731_757del) was identified in exon 6 of the EVC gene (NM_153717.2). The identified variant is considered to be the most likely candidate variant for the EvC syndrome in the family based on previous reports validating the role of EVC variants in the EvC syndrome. The disease correctly segregated in the family members, as all affected members were homozygous, and obligate carriers were heterozygous. Our family is remarkable in highlighting the variable expressivity of the EvC phenotype within the same family, due to a homozygous deletion mutation in the EVC gene. The variable expressivity might be due to the

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Zaka

Shahzad

Rao

et al. 2021

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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“…The most severe EVC phenotype is cardiorespiratory complication. Nearly, half of all EVC patients die during childhood though remedial heart surgery may raise survival rates (Nguyen et al, ; Pérez‐Andreu, Ray, Arribas, & Sánchez, ). Histopathologic features include disarranged chondrocytes in long bone metaphysis and, to a lesser extent, in central vertebrae metaphysis (Lichiardopol & Militaru, ).…”

Section: Introductionmentioning

confidence: 99%

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

Huang

Guo

et al. 2019

Molec Gen & Gen Med

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Background Ellis‐van Creveld syndrome (EVC), a very rare genetic skeletal dysplasia, is clinically characterized by a tetrad consisting of chondrodystrophy, polydactyly, ectodermal dysplasia, and cardiac anomalies. The aim of this study was to identify the genetic defect for EVC in a five‐generation consanguineous Han‐Chinese pedigree. Methods A five‐generation, 12‐member Han‐Chinese pedigree was enrolled in this study. Exome sequencing was applied in the proband to screen potential genetic variant(s), and then Sanger sequencing was used to identify the variant in family members and 200 unrelated ethnicity‐matched controls. Results A novel homozygous variant, c.2014C>T, p.(Q672*), in the EvC ciliary complex subunit 1 gene (EVC), was detected in the patient, which was cosegregated with the disease in the family and absent in the controls. Conclusion The identified novel homozygous EVC variant, c.2014C>T, p.(Q672*), was responsible for EVC in this Han‐Chinese pedigree. The findings in this study extend the EVC mutation spectrum and may provide new insights into EVC causation and diagnosis with implications for genetic counseling and clinical management.

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Ellis-van Creveld syndrome in adulthood: extending the clinical spectrum

Cited by 2 publications

References 10 publications

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

An intrafamilial phenotypic variability in Ellis‐Van Creveld syndrome due to a novel 27 bps deletion mutation

Identification of a novel EVC variant in a Han‐Chinese family with Ellis‐van Creveld syndrome

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