Publication: An ancient founder mutation in PROKR2 impairs human reproduction
An ancient founder mutation in PROKR2 impairs human reproduction
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Avbelj Stefanija, M., Jeanpierre, M., Sykiotis, G. P., Young, J., Quinton, R., Abreu, A. P., Plummer, L., Au, M. G., Balasubramanian, R., Dwyer, A. A., Florez, J. C., Cheetham, T., Pearce, S. H., Purushothaman, R., Schinzel, A., Pugeat, M., Jacobson-Dickman, E. E., Ten, S., Latronico, A. C., … Pitteloud, N. (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19), 4314–4324. https://doi.org/10.1093/hmg/dds264
Abstract
Abstract
Abstract
Congenital gonadotropin-releasing hormone (GnRH) deficiency manifests as absent or incomplete sexual maturation and infertility. Although the disease exhibits marked locus and allelic heterogeneity, with the causal mutations being both rare and private, one causal mutation in the prokineticin receptor, PROKR2 L173R, appears unusually prevalent among GnRH-deficient patients of diverse geographic and ethnic origins. To track the genetic ancestry of PROKR2 L173R, haplotype mapping was performed in 22 unrelated patients with GnRH deficien
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Creators (Authors)
- Avbelj Stefanija, Magdalena
- Jeanpierre, Marc
- Sykiotis, Gerasimos P
- Young, Jacques
- Quinton, Richard
- Abreu, Ana Paula
- Plummer, Lacey
- Au, Margaret G
- Balasubramanian, Ravikumar
- Dwyer, Andrew A
- Florez, Jose C
- Cheetham, Timothy
- Pearce, Simon H
- Purushothaman, Radhika
- Schinzel, Albert
- Pugeat, Michel
- Jacobson-Dickman, Elka E
- Ten, Svetlana
- Latronico, Ana Claudia
- Gusella, James F
- Dode, Catherine
- Crowley, William F
- Pitteloud, Nelly
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Citations
Avbelj Stefanija, M., Jeanpierre, M., Sykiotis, G. P., Young, J., Quinton, R., Abreu, A. P., Plummer, L., Au, M. G., Balasubramanian, R., Dwyer, A. A., Florez, J. C., Cheetham, T., Pearce, S. H., Purushothaman, R., Schinzel, A., Pugeat, M., Jacobson-Dickman, E. E., Ten, S., Latronico, A. C., … Pitteloud, N. (2012). An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics, 21(19), 4314–4324. https://doi.org/10.1093/hmg/dds264
