Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

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Title:	Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
Author(s):	Ruiz-Perez, V.L.; Tompson, S.W.; Blair, H.J.; Espinoza-Valdez, C.; Lapunzina, P.; Silva, E.O.; Hamel, B.C.J. ; Gibbs, J.L.; Young, I.D.; Wright, M.J.; Goodship, J.A.
Publication year:	2003
Source:	American Journal of Human Genetics, vol. 72, iss. 3, (2003), pp. 728-732
ISSN:	0002-9297
DOI:	https://doi.org/10.1086/368063
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/166897
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Subject:	UMCN 5.1: Genetic defects of metabolism
Organization:	Human Genetics
Journal title:	American Journal of Human Genetics
Volume:	vol. 72
Issue:	iss. 3
Page start:	p. 728
Page end:	p. 732
Abstract:	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.