Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome

Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved...

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Bibliographic Details
Published in:American journal of human genetics 2003-03, Vol.72 (3), p.728-732
Main Authors: Ruiz-Perez, Victor L., Stuart Tompson, W.J., Helen Blair, J., Espinoza-Valdez, Cecilia, Lapunzina, Pablo, Silva, Elias O., Hamel, Ben, Gibbs, John L., Young, Ian D., Wright, Michael J., Goodship, Judith A.
Format: Article
Language:English
Subjects:
Amino Acid Substitution
Animals
Biological and medical sciences
Carbohydrates (enzymatic deficiencies). Glycogenosis
Chromosome Mapping
Conserved Sequence
Ellis-Van Creveld Syndrome - genetics
Errors of metabolism
Exons
Female
Fishes
Genes, Recessive
Humans
Male
Medical sciences
Metabolic diseases
Molecular Sequence Data
Pedigree
Point Mutation
Proteins - genetics
Sequence Deletion
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Summary:Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.
ISSN:0002-9297
1537-6605
DOI:10.1086/368063