The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Polymeropoulos, Mihael H.; Ide, Susan; Wright, Michael J.; Goodship, Judith A.; Weissenbach, Jean; Pyeritz, Reed E.; Silva, Elias O. da; Luna, Rosa Isela Ortiz De; Francomano, Clair A.

doi:10.1006/geno.1996.0315

Cited by 120 publications

(77 citation statements)

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“…The functions of EVC and EVC2, which share a promoter, are aligned in control limb, skeleton and teeth development. Mutation of this gene has been implicated in both Ellis-van Creveld syndrome and Weyers acrodental dysostosis, the disease locus mapped to chromosome 4p16 (Polymeropoulos et al, 1996). Ellis-van Creveld syndrome is an autosomal recessive disorder characterized by chondrodysplasia and CHD, typically a common atrium of the atrioventricular septal defect type or secundum type atrial septal defects (Ali et al, 2010;Hills et al, 2011;Tompson et al, 2007 (Micale et al, 2010;Rodriguez-Revenga et al, 2005;Arrington et al, 2006).…”

Section: Single Gene Disordermentioning

confidence: 99%

Epidemiology and Etiology of Congenital Heart Diseases

Sayasathid¹,

Sukonpan²,

Somboonna³

2012

Congenital Heart Disease - Selected Aspects

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Section: Single Gene Disordermentioning

confidence: 99%

Epidemiology and Etiology of Congenital Heart Diseases

Sayasathid¹,

Sukonpan²,

Somboonna³

2012

Congenital Heart Disease - Selected Aspects

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“…225500) (Polymeropoulos et al 1996), Ellis±van Creveld-like syndrome (OMIM no. 602363) (Howard et al 1997), chondrodysplasia punctata (OMIM no.…”

Section: Genes To Cells (2000) 5 499±513mentioning

confidence: 99%

Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation

et al. 2000

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“…Genotypes were determined for the probands, their parents and siblings. Marker order within the region was determined utilizing information from the EVC mapping report (Polymeropoulos et al 5 ) and the genome databases: tel-D4S3023-D4S1013-D4S3135-D4S1013-D4S3135-D4S827-D4S500-D4S431-cen.…”

Section: Methodsmentioning

confidence: 99%

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

et al. 2000

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Ellis-van Creveld syndrome (EVC) is a relatively rare, usually non-lethal, autosomal recessive skeletal dysplasia characterized by short stature, polydactyly, cardiac and renal anomalies. Linkage analysis has localized the disease gene to chromosome 4p16, with the markers at loci D4S827 and D4S3135 defining the centromeric and telomeric limits of the linked interval, respectively. 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. We performed linkage analysis using markers from the EVC region in seven families manifesting either ATD or SRP type III. In two of the families, one segregating ATD and one SRP kindred, linkage of the phenotype to the EVC region was excluded. In the other five families linkage of the phenotype to the EVC region could not be excluded, but the families were too small for linkage to the region to be established. The exclusion of the EVC region in ATD and SRP III families suggests that locus heterogeneity exists within the short-rib dysplasia (with and without polydactyly) group of disorders.

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The Gene for the Ellis–van Creveld Syndrome Is Located on Chromosome 4p16

Cited by 120 publications

References 0 publications

Epidemiology and Etiology of Congenital Heart Diseases

Epidemiology and Etiology of Congenital Heart Diseases

Targeted disruption of the homeobox transcription factor Bapx1 results in lethal skeletal dysplasia with asplenia and gastroduodenal malformation

Exclusion of the Ellis–van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes

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