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

被引：141
作者：
Ruiz-Perez, VL
Tompson, SWJ
Blair, HJ
Espinoza-Valdez, C
Lapunzina, P
Silva, EO
Hamel, B
Gibbs, JL
Young, ID
Wright, MJ
Goodship, JA
机构：
[1] Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne NE1 3BZ, Tyne & Wear, England
[2] Hosp Univ Catolico, Cuenca, Ecuador
[3] Hosp Univ La Paz, Madrid, Spain
[4] Inst Maternoinfantil Pernambuco, Recife, PE, Brazil
[5] Univ Med Ctr, Dept Human Genet, Nijmegen, Netherlands
[6] Leeds Gen Infirm, Leeds, W Yorkshire, England
[7] Leicester Royal Infirm, Leicester, Leics, England
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 72卷 / 03期
基金：
英国医学研究理事会;
关键词：
D O I：
10.1086/368063
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：728 / 732
页数：5
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