The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 97, Issue 5, 2012, Pages

  Bergman, Jorieke E H ^a   De Ronde, Willem ^b   Jongmans, Marjolijn C J ^c   Wolffenbuttel, Bruce H R ^a   Drop, Sten L S ^d   Hermus, Ad ^c   Bocca, Gianni ^a   Hoefsloot, Lies H ^c   Van Ravenswaaij Arts, Conny M A ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b Kennemer Gasthuis ^*  (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHD7 GENE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DUTCH; ETHNIC GROUP; FEMALE; FGF8 GENE; FGFR1 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEALTH STATUS; HETEROZYGOSITY; HORMONE SUBSTITUTION; HUMAN; KAL1 GENE; KALLMANN SYNDROME; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; PROK2 GENE; PROKR2 GENE; SYMPTOMATOLOGY; SYNDROME CHARGE;

ADULT; CHARGE SYNDROME; COHORT STUDIES; DNA HELICASES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; KALLMANN SYNDROME; MALE; MUTATION;

EID: 84860732965     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2011-2652     Document Type: Article

References (20)

1. Kallmann FJ, Schoenfeld WA, Barrera SE 1944 The genetic aspects of primary eunuchoidism. Am J Ment Def 48:203-236
2. Yousem DM, Turner WJ, Li C, Snyder PJ, Doty RL 1993 Kallmann syndrome: MR evaluation of olfactory system. Am J Neuroradiol 14:839-843
3. Mitchell AL, Dwyer A, Pitteloud N, Quinton R 2011 Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory. Trends Endocrinol Metab 22:249-258
4. Bergman JE, Bocca G, Hoefsloot LH, Meiners LC, van Ravenswaaij-Arts CM 2011 Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. J Pediatr 158:474-479
5. Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J Med Genet 48:334-342
6. Dodé C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML, Lespinasse J, Lienhardt-Roussie A, Mathieu M, Moerman A, Morgan G, Murat A, Toublanc JE, Wolczynski S, Delpech M, Petit C, Young J, Hardelin JP 2006 Kallmann syndrome: mutationsinthe genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2:e175
7. Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y, Jacobson-Dickman EE, Eliseenkova AV, Ma J, Dwyer A, Quinton R, Na S, Hall JE, Huot C, Alois N, Pearce SH, Cole LW, Hughes V, Mohammadi M, Tsai P, Pitteloud N 2008 Decreased FGF 8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest 118:2822-2831
8. Kim HG, Ahn JW, Kurth I, Ullmann R, Kim HT, Kulharya A, Ha KS, Itokawa Y, Meliciani I, Wenzel W, Lee D, Rosenberger G, Ozata M, Bick DP, Sherins RJ, Nagase T, Tekin M, Kim SH, Kim CH, Ropers HH, Gusella JF, Kalscheuer V, Choi CY, Layman LC 2010 WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 87:465-479
9. Tsai PS, Gill JC 2006 Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome. Nat Clin Pract Endocrinol Metab 2:160-171
10. Xu N, Kim HG, Bhagavath B, Cho SG, Lee JH, Ha K, Meliciani I, Wenzel W, Podolsky RH, Chorich LP, Stackhouse KA, Grove AM, Odom LN, Ozata M, Bick DP, Sherins RJ, Kim SH, Cameron RS, Layman LC 2011 Nasalembryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. Fertil Steril 95:1613-1620.e1-7
11. Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL, van der Donk K, Seminara S, Bergman JE, Brunner HG, Crowley Jr WF, Hoefsloot LH 2009 CHD7 mutations in patients initially diagnosed with Kallmann syndrome: the clinical overlap with CHARGE syndrome. Clin Genet 75:65-71
12. Kim HG, Kurth I, Lan F, Meliciani I, Wenzel W, Eom SH, Kang GB, Rosenberger G, Tekin M, Ozata M, Bick DP, Sherins RJ, Walker SL, Shi Y, Gusella JF, Layman LC 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am J Hum Genet 83:511-519
13. Pagon RA, Graham JM Jr, Zonana J, Yong SL 1981 Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr 99:223-227
14. Jongmans MC, Admiraal RJ, Van Der Donk KP, Vissers LE, Baas AF, Kapusta L, van Hagen JM, Donnai D, de Ravel TJ, Veltman JA, Geurts van Kessel A, De Vries BB, Brunner HG, Hoefsloot LH, van Ravenswaaij CM 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene. J Med Genet 43:306-314
15. Doty RL, Shaman P, Dann M 1984 Development of the University of Pennsylvania smell identification test: a standardized microencapsulated test of olfactory function. Physiol Behav 32:489-502
16. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR 2010 A method and server for predicting damaging missense mutations. Nat Methods 7:248-249
17. Kumar P, Henikoff S, Ng PC 2009 Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081
18. Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV 2006 Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods. Nucleic Acids Res 34:1317-1325
19. Laitinen EM, Vaaralahti K, Tommiska J, Eklund E, Tervaniemi M, Valanne L, Raivio T 2011 Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J Rare Dis 6:41
20. Abadie V, Wiener-Vacher S, Morisseau-Durand MP, Porée C, Amiel J, Amanou L, Peigné C, Lyonnet S, Manac'h Y 2000 Vestibular anomalies in CHARGE syndrome: investigations on and consequences for postural development. Eur J Pediatr 159:569-574.