PROKR2 mutations in autosomal recessive Kallmann syndrome

Fertility and Sterility

Volumn 99, Issue 3, 2013, Pages 815-818

  Tommiska, Johanna ^a,b   Toppari, Jorma ^c   Vaaralahti, Kirsi ^a   Känsäkoski, Johanna ^a   Laitinen, Eeva Maria ^a,b   Noisa, Parinya ^a,d   Kinnala, Anne ^e   Niinikoski, Harri ^c   Raivio, Taneli ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^c TURKU UNIVERSITY HOSPITAL   (Finland)

^d SURANAREE UNIVERSITY OF TECHNOLOGY   (Thailand)

^e Salo District Hospital   (Finland)

Author keywords

biallelic mutations; hypogonadotropic hypogonadism; PROKR2; recessive inheritance

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; FIBROBLAST GROWTH FACTOR RECEPTOR 1; GENOMIC DNA; INHIBIN B; KAL1 PROTEIN; PROKINETICIN 2; PROKINETICIN RECEPTOR 2; PROTEIN; RECEPTOR; RECOMBINANT FOLLITROPIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CONTROLLED STUDY; DESCRIPTIVE RESEARCH; DNA POLYMORPHISM; EXON; GENETIC VARIABILITY; GENOTYPE; HOMOZYGOSITY; HORMONE BLOOD LEVEL; HUMAN; HUMAN CELL; HYPOGONADOTROPIC HYPOGONADISM; INTRON; KALLMANN SYNDROME; MALE; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; KALLMANN SYNDROME; MALE; MUTATION, MISSENSE; PHENOTYPE; RECEPTORS, G-PROTEIN-COUPLED; RECEPTORS, PEPTIDE; SERTOLI CELLS; SIBLINGS; SIGNAL TRANSDUCTION;

EID: 84875222270     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2012.11.003     Document Type: Article

References (13)

1. C. Dodé, L. Teixeira, J. Levilliers, C. Fouveaut, P. Bouchard, and M.L. Kottler Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 PLoS Genet 2 2006 e175
2. A.P. Abreu, E.B. Trarbach, M. de Castro, E.M. Frade Costa, B. Versiani, and M.T. Matias Baptista Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome J Clin Endocrinol Metab 93 2008 4113 4118
3. S. Matsumoto, C. Yamazaki, K.H. Masumoto, M. Nagano, M. Naito, and T. Soga Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2 Proc Natl Acad Sci USA 103 2006 4140 4145
4. L.W. Cole, Y. Sidis, C. Zhang, R. Quinton, L. Plummer, and D. Pignatelli Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum J Clin Endocrinol Metab 93 2008 3551 3559
5. J. Sarfati, A. Guiochon-Mantel, P. Rondard, I. Arnulf, A. Garcia-Piñero, and S. Wolczynski A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes J Clin Endocrinol Metab 95 2010 659 669
6. N. Pitteloud, R. Quinton, S. Pearce, T. Raivio, J. Acierno, and A. Dwyer Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism J Clin Invest 117 2007 457 463
7. S.D. Quaynor, H.G. Kim, E.M. Cappello, T. Williams, L.P. Chorich, and D.P. Bick The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome Fertil Steril 96 2011 1424 1430
8. I.A. Adzhubei, S. Schmidt, L. Peshkin, V.E. Ramensky, A. Gerasimova, and P. Bork Nat Methods 7 2010 248 249
9. T. Raivio, J. Toppari, A. Perheentupa, A.S. McNeilly, and L. Dunkel Treatment of prepubertal gonadotrophin-deficient boys with recombinant human follicle-stimulating hormone Lancet 350 1997 263 264
10. C. Martin, R. Balasubramanian, A.A. Dwyer, M.G. Au, Y. Sidis, and U.B. Kaiser The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations Endocrinol Rev 32 2011 225 246
11. C. Monnier, C. Dodé, L. Fabre, L. Teixeira, G. Labesse, and J. Pin PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity Hum Mol Genet 18 2009 75 81
12. G.P. Sykiotis, L. Plummer, V.A. Hughes, M. Au, S. Durrani, and S. Nayak-Young Oligogenic basis of isolated gonadotropin-releasing hormone deficiency Proc Natl Acad Sci U S A 107 2010 15140 15144
13. G.P. Sykiotis, X.H. Hoang, M. Avbelj, F.J. Hayes, A. Thambundit, and A. Dwyer Congenital idiopathic hypogonadotropic hypogonadism: evidence of defects in the hypothalamus, pituitary, and testes J Clin Endocrinol Metab 95 2010 3019 3027