Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients

European Journal of Endocrinology

Volumn 169, Issue 6, 2013, Pages 805-809

  Sarfati, Julie ^a   Fouveaut, Corinne ^b   Leroy, Chrystel ^b   Jeanpierre, Marc ^a   Hardelin, Jean Pierre ^c   Dodé, Catherine ^a,b  

^a INSTITUT COCHIN   (France)

^b Institut Cochin   (France)

^c INSTITUT PASTEUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FGF8 PROTEIN, HUMAN; FGFR1 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTOR RECEPTOR 1; G PROTEIN COUPLED RECEPTOR; GASTROINTESTINAL HORMONE; KAL1 PROTEIN, HUMAN; NERVE PROTEIN; NEUROPEPTIDE; PROK2 PROTEIN, HUMAN; PROKR2 PROTEIN, HUMAN; RECEPTOR; SCLEROPROTEIN;

ADULT; ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE TRANSMISSION; ETHNIC DIFFERENCE; ETHNIC GROUP; EUROPEAN; FEMALE; FGF8 GENE; FGFR1 GENE; GENE FREQUENCY; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; KAL1 GENE; KALLMANN SYNDROME; MAGHREBIAN; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; MONOGENIC DISORDER; MUTATIONAL ANALYSIS; POPULATION RESEARCH; PREVALENCE; PRIORITY JOURNAL; PROK2 GENE; PROKR2 GENE; AFRICA; AGED; ARAB; CAUCASIAN; COMPARATIVE STUDY; DNA SEQUENCE; EUROPE; EXON; GENETICS; INTRON; MIDDLE AGED; MUTATION;

ADULT; AFRICA, NORTHERN; AGED; ARABS; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FIBROBLAST GROWTH FACTOR 8; GASTROINTESTINAL HORMONES; GENE FREQUENCY; HUMANS; INTRONS; KALLMANN SYNDROME; MALE; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; NEUROPEPTIDES; PREVALENCE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, PEPTIDE; SEQUENCE ANALYSIS, DNA;

EID: 84888231490     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-13-0419     Document Type: Article

References (26)

1. Dodé C & Hardelin J-P. Kallmann syndrome. European Journal of Human Genetics 2009 17 139-146. (doi:10.1038/ejhg.2008. 206)
2. Teixeira L, Guimiot F, Dodé C, Fallet-Bianco C, Millar RP, Delezoide A-L & Hardelin J-P. Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions. Journal of Clinical Investigation 2010 120 3668-3672. (doi:10. 1172/JCI43699)
3. Li M, Bullock C, Knaeur D, Ehlert FJ & Zhou Q. Identification of two prokineticin cDNAs: recombinant proteins potently contract gastrointestinal smooth muscle. Molecular Pharmacology 2001 59 692-698. (doi:10.1124/mol.59.692)
4. Lin D C H, Bullock C, Ehlert FJ, Chen JL, Tian H & Zhou QY. Identification and molecular characterization of two closely related G protein-coupled receptors activated by prokineticins/endocrine gland vascular endothelial growth factor. Journal of Biological Chemistry 2002 277 19276-19280. (doi:10.1074/jbc. M202139200)
5. Soga T, Matsumoto SI, Oda T, Saito T, Hiyama H, Takasaki J, Kamohara M, Ohishi T, Matsushime H & Furuichi K. Molecular cloning and characterization of prokineticin receptors. Biochimica et Biophysica Acta 2002 1579 173-179. (doi:10.1016/S0167-4781 (02) 00546-8)
6. Ngan E S W & Tam P K H. Prokineticin-signaling pathway. International Journal of Biochemistry & Cell Biology 2008 40 1679-1684. (doi:10.1016/j.biocel.2008.03.010)
7. Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler M-L, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman M et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genetics 2006 2 1648-1652. (doi:10.1371/journal.pgen. 0020175)
8. Pitteloud N, Zhang C, Pignatelli D, Li JD, Raivio T, Cole LW, Plummer L, Jacobson-Dickman EE, Mellon PL, Zhou QY et al. Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. PNAS 2007 104 17447-17452. (doi:10.1073/pnas. 0707173104)
9. Abreu AP, Trarbach EB, de Castro M, Frade Costa EM, Versiani B, Matias Baptista MT, Mendes Garmes H, Bilharinho Mendonca B & Latronico AC. Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. Journal of Clinical Endocrinology and Metabolism 2008 93 4113-4118. (doi:10.1210/jc.2008-0958)
10. Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ et al. Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. Journal of Clinical Endocrinology and Metabolism 2008 93 3551-3559. (doi:10.1210/jc.2007-2654)
11. Leroy C, Fouveaut C, Leclercq S, Jacquemont S, Boullay HD, Lespinasse J, Delpech M, Dupont J-M, Hardelin J-P & Dodé C. Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome. European Journal of Human Genetics 2008 16 865-868. (doi:10.1038/ejhg.2008.15)
12. Monnier C, Dodé C, Fabre L, Teixeira L, Labesse G, Pin J-P, Hardelin J-P & Rondard P. PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling-activity. Human Molecular Genetics 2009 18 75-81. (doi:10.1093/hmg/ddn318)
13. Sarfati J, Guiochon-Mantel A, Rondard P, Arnulf I, Garcia-Pinero A, Wolczynski S, Brailly-Tabard S, Bidet M, Arroyo R, Mathieu M et al. A comparative study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes. Journal of Clinical Endocrinology and Metabolism 2010 95 659-669. (doi:10.1210/jc.2009-0843)
14. Tommiska J, Toppari J, Vaaralahti K, Kansakoski J, Laitinen EM, Noisa P, Kinnala A, Niinikoski H & Raivio T. PROKR2 mutations in autosomal recessive Kallmann syndrome. Fertility and Sterility 2013 99 815-818. (doi:10.1016/j. fertnstert.2012.11.003)
15. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S, Dwyer AA, Quinton R, Hall JE, Gusella JF et al. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. PNAS 2010 107 15140-15144. (doi:10.1073/pnas.1009622107)
16. Hardelin J-P, Levilliers J, Blanchard S, Carel J-C, Leutenegger M, Pinard-Bertelletto J-P, Bouloux P & Petit C. Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. Human Molecular Genetics 1993 2 373-377. (doi:10.1093/hmg/2.4.373)
17. Dodé C, Levilliers J, Dupont J-M, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nature Genetics 2003 33 463-465. (doi:10.1038/ng1122)
18. Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A et al. Decreased FGF8 signaling causes deficiency of gonadotropinreleasing hormone in humans and mice. Journal of Clinical Investigation 2008 118 2822-2831. (doi:10.1172/JCI34538)
19. Avbelj Stefanija M, Jeanpierre M, Sykiotis GP, Young J, Quinton R, Abreu AP, Plummer L, Au MG, Balasubramanian R, Dwyer AA et al. An ancient founder mutation in PROKR2 impairs human reproduction. Human Molecular Genetics 2012 21 4314-4324. (doi:10.1093/hmg/dds264)
20. Chaabouni-Bouhamed H. Tunisia: communities and community genetics. Community Genetics 2008 11 313-323. (doi:10.1159/000133303)
21. Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V et al. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. Journal of Clinical Endocrinology and Metabolism 2012 97 E694-E699. (doi:10.1210/jc.2011-2938)
22. Olson MV. Human genetic individuality. Annual Review of Genomics and Human Genetics 2012 13 1-27. (doi:10.1146/annurevgenom-090711-163825)
23. Catalano RD, Lannagan T R M, Gorowiec M, Denison FC, Norman JE & Jabbour HN. Prokineticins: novel mediators of inflammatory and contractile pathways at parturition? Molecular Human Reproduction 2010 16 311-319. (doi:10.1093/molehr/gaq014)
24. Gorowiec MR, Catalano RD, Norman JE, Denison FC & Jabbour HN. Prokineticin-1 induces inflammatory response in human myometrium: a potential role in initiating term and preterm parturition. American Journal of Pathology 2011 179 2709-2719. (doi:10.1016/j.ajpath.2011.08.029)
25. Dean M, Carrington M, Winkler C, Huttley GA, Smith MW, Allikmets R, Goedert JJ, Buchbinder SP, Vittinghoff E, Gomperts E et al. Genetic restriction of HIV-1 infection and progression to AIDS by a deletion allele of the CKR5 structural gene. Hemophilia Growth and Development Study, Multicenter AIDS Cohort Study, Multicenter Hemophilia Cohort Study, San Francisco City Cohort, ALIVE Study. Science 1996 273 1856-1862. (doi:10.1126/science.273.5283.1856)
26. Samson M, Libert F, Doranz BJ, Rucker J, Liesnard C, Farber CM, Saragosti S, Lapoumeroulie C, Cognaux J, Forceille C et al. Resistance to HIV-1 infection in Caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene. Nature 1996 382 722-725. (doi:10.1038/382722a0)