CHARGE syndrome and Kallmann syndrome: are the two genetically related?

References

• Sabado V, Barraud P, Baker CV, Streit A. Specification of GnRH-1 neurons by antagonistic FGF and retinoic acid signaling. Dev. Biol. 362(2), 254–262 (2012).
   Google Scholar
• Laitinen EM, Vaaralahti K, Tommiska J et al. Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. Orphanet J. Rare Dis. 6, 41 (2011).
   PubMed Web of Science ®Google Scholar
• Brioude F, Bouligand J, Trabado S et al. Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships. Eur. J. Endocrinol. 162(5), 835–851 (2010).
   Google Scholar
• Laitinen EM, Tommiska J, Sane T, Vaaralahti K, Toppari J, Raivio T. Reversible congenital hypogonadotropic hypogonadism in patients with CHD7, FGFR1 or GNRHR mutations. PLoS ONE 7(6), e39450 (2012).
   Google Scholar
• Legouis R, Hardelin JP, Levilliers J et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 67(2), 423–435 (1991).
   PubMed Web of Science ®Google Scholar
• Franco B, Guioli S, Pragliola A et al. A gene deleted in Kallmann’s syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353(6344), 529–536 (1991).
   PubMed Web of Science ®Google Scholar
• Falardeau J, Chung WC, Beenken A et al. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J. Clin. Invest. 118(8), 2822–2831 (2008).
   PubMedGoogle Scholar
• Chung WC, Moyle SS, Tsai PS. Fibroblast growth factor 8 signaling through fibroblast growth factor receptor 1 is required for the emergence of gonadotropin-releasing hormone neurons. Endocrinology 149(10), 4997–5003 (2008).
   Google Scholar
• Hall BD. Choanal atresia and associated multiple anomalies. J. Pediatr. 95(3), 395–398 (1979).
   PubMed Web of Science ®Google Scholar
• Hittner HM, Hirsch NJ, Kreh GM, Rudolph AJ. Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation – a syndrome. J. Pediatr. Ophthalmol. Strabismus 16(2), 122–128 (1979).
   PubMed Web of Science ®Google Scholar
• Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J. Pediatr. 99(2), 223–227 (1981).
   PubMed Web of Science ®Google Scholar
• Issekutz KA, Graham JM Jr, Prasad C, Smith IM, Blake KD. An epidemiological analysis of CHARGE syndrome: preliminary results from a Canadian study. Am. J. Med. Genet. A 133A(3), 309–317 (2005).
   PubMedGoogle Scholar
• Pinto G, Abadie V, Mesnage R et al. CHARGE syndrome includes hypogonadotropic hypogonadism and abnormal olfactory bulb development. J. Clin. Endocrinol. Metab. 90(10), 5621–5626 (2005).
   PubMed Web of Science ®Google Scholar
• Chalouhi C, Faulcon P, Le Bihan C, Hertz-Pannier L, Bonfils P, Abadie V. Olfactory evaluation in children: application to the CHARGE syndrome. Pediatrics 116(1), e81–e88 (2005).
   Web of Science ®Google Scholar
• Blake KD, Prasad C. CHARGE syndrome. Orphanet J. Rare Dis. 1, 34 (2006).
   PubMed Web of Science ®Google Scholar
• Kim HG, Kurth I, Lan F et al. Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. Am. J. Hum. Genet. 83(4), 511–519 (2008).
   PubMed Web of Science ®Google Scholar
• Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N et al. CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome. Clin. Genet. 75(1), 65–71 (2009).
   PubMed Web of Science ®Google Scholar
• Bajpai R, Chen DA, Rada-Iglesias A et al. CHD7 cooperates with PBAF to control multipotent neural crest formation. Nature 463(7283), 958–962 (2010).
   PubMed Web of Science ®Google Scholar
• Schnetz MP, Handoko L, Akhtar-Zaidi B et al. CHD7 targets active gene enhancer elements to modulate ES cell-specific gene expression. PLoS Genet. 6(7), e1001023 (2010).
   PubMed Web of Science ®Google Scholar
• Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW. SEMA3E mutation in a patient with CHARGE syndrome. J. Med. Genet. 41(7), e94 (2004).
   Google Scholar
• Young J, Metay C, Bouligand J et al. SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. Hum. Reprod. 27(5), 1460–1465 (2012).
   Google Scholar
• Bergman JE, de Ronde W, Jongmans MC et al. The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. J. Clin. Endocrinol. Metab. 97(5), E858–E862 (2012).
   Google Scholar
• Tsai PS, Gill JC. Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome. Nat. Clin. Pract. Endocrinol. Metab. 2(3), 160–171 (2006).
   PubMedGoogle Scholar
• Bergman JE, Janssen N, Hoefsloot LH, Jongmans MC, Hofstra RM, van Ravenswaaij-Arts CM. CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype. J. Med. Genet. 48(5), 334–342 (2011).
   PubMed Web of Science ®Google Scholar
• Raivio T, Falardeau J, Dwyer A et al. Reversal of idiopathic hypogonadotropic hypogonadism. N. Engl. J. Med. 357(9), 863–873 (2007).
   PubMed Web of Science ®Google Scholar
• Layman WS, Hurd EA, Martin DM. Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum. Mol. Genet. 20(16), 3138–3150 (2011).
   PubMedGoogle Scholar
• Forni PE, Taylor-Burds C, Melvin VS, Williams T, Williams T, Wray S. Neural crest and ectodermal cells intermix in the nasal placode to give rise to GnRH-1 neurons, sensory neurons, and olfactory ensheathing cells. J. Neurosci. 31(18), 6915–6927 (2011).
   Google Scholar