Journal of Andrology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Published-Ahead-of-Print August 21, 2008, DOI:10.2164/jandrol.108.005314

This Article
Right arrow Author Manuscript (PDF)
Right arrow All Versions of this Article:
30/1/41    most recent
Author Manuscript (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Canto, P.
Right arrow Articles by Méndez, J. P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Canto, P.
Right arrow Articles by Méndez, J. P.

Genetic Analysis in Patients with Kallmann Syndrome: Coexistance of Mutations in Prokineticin Receptor 2 and KAL1

Patricia Canto , Patricia Munguía , Daniela Söderlund , Josue Joram Castro , and Juan Pablo Méndez *

* To whom correspondence should be addressed. E-mail: jpmb{at}servidor.unam.mx.

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. To date, four different genes have been identified as responsible for the presence of KS; however in many cases no mutations have been found in any of these genes. Herein, we report the molecular findings regarding the analysis of the FGFR1, PROKR2, and PROK2 in patients with Kallmann syndrome (KS). Twenty four patients with KS were studied in whom mutations in KAL1 had been investigated previously. PCR products from the FGFR1, PROKR2, and PROK2, were sequenced and mutations were sought in the open reading frame of the three genes. Two patients presented a heterozygous T-to-G transversion in exon 2 (c.518T>G) of the PROKR2, which results in a leucine-to-arginine substitution at codon 173. Our results strengthen the hypothesis of possible digenic inheritance in some patients with KS. Likewise, our data extend previous reports demonstrating that PROKR2 plays a role in the etiology of this syndrome.


Key words: Androgen • Hormone • Penis • Puberty • Testis • KAL1 • Kallmann syndrome • PROKR2 • digenic inheritance • mutations




This article has been cited by other articles:


Home page
 Endocr RevHome page
C. Martin, R. Balasubramanian, A. A. Dwyer, M. G. Au, Y. Sidis, U. B. Kaiser, S. B. Seminara, N. Pitteloud, Q.-Y. Zhou, and W. F. Crowley Jr
The Role of the Prokineticin 2 Pathway in Human Reproduction: Evidence from the Study of Human and Murine Gene Mutations
Endocr. Rev., April 1, 2011; 32(2): 225 - 246.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
G. P. Sykiotis, L. Plummer, V. A. Hughes, M. Au, S. Durrani, S. Nayak-Young, A. A. Dwyer, R. Quinton, J. E. Hall, J. F. Gusella, et al.
Oligogenic basis of isolated gonadotropin-releasing hormone deficiency
PNAS, August 24, 2010; 107(34): 15140 - 15144.
[Abstract] [Full Text] [PDF]

Home page
 Cold Spring Harb. Perspect. Biol.Home page
E. C. Engle
Human Genetic Disorders of Axon Guidance
Cold Spring Harb Perspect Biol, March 1, 2010; 2(3): a001784 - a001784.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
Y.-M. Chan, A. de Guillebon, M. Lang-Muritano, L. Plummer, F. Cerrato, S. Tsiaras, A. Gaspert, H. B. Lavoie, C.-H. Wu, W. F. Crowley Jr., et al.
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism
PNAS, July 14, 2009; 106(28): 11703 - 11708.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH
Copyright © 2008 by The American Society of Andrology.