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 from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.
Ruiz-Perez
Victor L
VL
Institute of Human Genetics, Newcastle University, Newcastle-upon-Tyne, United Kingdom.
Tompson
Stuart W J
SW
Blair
Helen J
HJ
Espinoza-Valdez
Cecilia
C
Lapunzina
Pablo
P
Silva
Elias O
EO
Hamel
Ben
B
Gibbs
John L
JL
Young
Ian D
ID
Wright
Michael J
MJ
Goodship
Judith A
JA
D019943:Amino Acid Substitution; D000818:Animals; D002874:Chromosome Mapping; D017124:Conserved Sequence; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005091:Exons; D005260:Female; D005399:Fishes; D005808:Genes, Recessive; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion
C473310:EVC2 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D011506:Proteins