Publication: Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia
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Huber, C., Faqeih, E. A., Bartholdi, D., Bole-Feysot, C., Borochowitz, Z., Cavalcanti, D. P., Frigo, A., Nitschke, P., Roume, J., Santos, H. G., Shalev, S. A., Superti-Furga, A., Delezoide, A.-L., Le Merrer, M., Munnich, A., & Cormier-Daire, V. (2013). Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. American Journal of Human Genetics, 92(1), 144–149. https://doi.org/10.1016/j.ajhg.2012.11.015
Abstract
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Opsismodysplasia (OPS) is a severe autosomal-recessive chondrodysplasia characterized by pre- and postnatal micromelia with extremely short hands and feet. The main radiological features are severe platyspondyly, squared metacarpals, delayed skeletal ossification, and metaphyseal cupping. In order to identify mutations causing OPS, a total of 16 cases (7 terminated pregnancies and 9 postnatal cases) from 10 unrelated families were included in this study. We performed exome sequencing in three cases from three unrelated families and on
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- Huber, Céline
- Faqeih, Eissa Ali
- Bartholdi, Deborah
- Bole-Feysot, Christine
- Borochowitz, Zvi
- Cavalcanti, Denise P
- Frigo, Amandine
- Nitschke, Patrick
- Roume, Joelle
- Santos, Heloísa G
- Shalev, Stavit A
- Superti-Furga, Andrea
- Delezoide, Anne-Lise
- Le Merrer, Martine
- Munnich, Arnold
- Cormier-Daire, Valérie
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Huber, C., Faqeih, E. A., Bartholdi, D., Bole-Feysot, C., Borochowitz, Z., Cavalcanti, D. P., Frigo, A., Nitschke, P., Roume, J., Santos, H. G., Shalev, S. A., Superti-Furga, A., Delezoide, A.-L., Le Merrer, M., Munnich, A., & Cormier-Daire, V. (2013). Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. American Journal of Human Genetics, 92(1), 144–149. https://doi.org/10.1016/j.ajhg.2012.11.015
