Publication: Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling
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Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Perez-Aytes, A., Temtamy, S., Aglan, M., Goodship, J. A., & Ruiz-Perez, V. L. (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30, 1667–1675. https://doi.org/10.1002/humu.21117
Abstract
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Autosomal recessive Ellis-van Creveld syndrome and autosomal dominant Weyer acrodental dysostosis are allelic conditions caused by mutations in EVC or EVC2. We performed a mutation screening study in 36 EvC cases and 3 cases of Weyer acrodental dysostosis, and identified pathogenic changes either in EVC or in EVC2 in all cases. We detected 40 independent EVC/EVC2 mutations of which 29 were novel changes in Ellis-van Creveld cases and 2 were novel mutations identified in Weyer pedigrees. Of interest one EvC patient had a T>G nucleotide
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Creators (Authors)
- Valencia, M
- Lapunzina, P
- Lim, D
- Zannolli, R
- Bartholdi, D
- Wollnik, B
- Al-Ajlouni, O
- Eid, S S
- Cox, H
- Buoni, S
- Hayek, J
- Martinez-Frias, M L
- Temtamy, S
- Aglan, M
- Goodship, J A
- Ruiz-Perez, V L
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Valencia, M., Lapunzina, P., Lim, D., Zannolli, R., Bartholdi, D., Wollnik, B., Al-Ajlouni, O., Eid, S. S., Cox, H., Buoni, S., Hayek, J., Martinez-Frias, M. L., Perez-Aytes, A., Temtamy, S., Aglan, M., Goodship, J. A., & Ruiz-Perez, V. L. (2009). Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. Human Mutation, 30, 1667–1675. https://doi.org/10.1002/humu.21117
