et al.: Mutations in fibroblast growth factor receptor 1 cause Kallmann syndrome with a wide spectrum of reproductive phenotypes. et al.: Abnormal development of the olfactory bulb and reproductive system in mice lacking prokineticin receptor PKR2. KALLMANN F.J., SCHOENFELD W.A.: The genetic aspects of primary eunuchoidism. HEBERT J.M., PARTANEN J., ROSSANT J., MCCONNELL S.K.: FGF signaling through FGFR1 is required for olfactory bulb morphogenesis. et al.: Heterogeneity in the mutations resposible for X chromosome-linked Kallmann syndrome. HARDELIN J.P., LEVILLIERS J., BLANCHARD S. et al.: Anosmine-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implication for the developmental anomalies of X chromosome-linked Kallmann syndrome. HARDELIN J.P., KARYN JULLIARD A., MONIOT B. et al.: A gene deleted in Kallmann’s syndrome shares homology with neural cell adhesion and axonal path finding molecules. PLoS Genet., 2006, 2: e175.įRANCO B., GUIOLI S., PRAGLIOLA A. et al.: Kallmann Syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. et al.: Loss of function mutations in FGFR1 causes autosomal dominant Kallmann syndrome. Neurosci., 2007, 27: 2387–2395.ĭODÉ C., HARDELIN J.P.: Syndrome de Kallmann De Morsier, insuffisance de signalisation par les FGF? Médecine Sciences, 2004, 20: 8–9.ĭODÉ C., LEVILLIERS J., DUPONT J.M. et al.: Neuropilin-2 and its ligands are involved in the migration of GnRH-secreting neurons.
New-York, Elsevier Science B.V., 2002.ĬARIBONI A., HICKOK J., RAKIC S.
MIROIR EN FORME DE COOKIE MAC
The authors describe the genetic features and recent findings of KS, necessary to understand this disease.īOULOUX P.M., YOULI H.U., MAC COLL G.: Recent advances in the pathogenesis of Kallmann’s syndrome. Neuropilin2, which has an important role in migration of GnRH neurons, is a recent candidate gene for KS. Mutations in these genes induce various degrees of olfactory and reproductive dysfunction, but not the other symptoms seen in KAL-1 and KAL-2 forms of KS. The loss of function mutations in FGFR1 “fibroblast growth factor” were identified in 2003 as a cause of autosomal forms of this disease.Īn additional autosomal cause of Kallmann syndrome was recently identified by a mutation in the prokineticin receptor-2 gene (PROKR2) (KAL-3) and its ligand prokineticin 2 (PROK2) (KAL-4). It also allows migration of olfactory neurons from the olfactory bulbs to the hypothalamus. It is required to promote migration of GnRH neurons into the hypothalamus. Anosmin-1 is normally expressed in the brain, facial mesenchyme, mesonephros and metanephros. Mutations in KAL1 which encodes Anosmin-1, are responsible for the X-linked form of KS.
In KS, the GnRH neurons do not migrate correctly from the olfactory placode to the hypothalamus during development and olfactory bulbs also fail to form, leading to anosmia. The presence of anosmia with micropenis in boys is suggestive of the diagnostic of KS. Kallmann syndrome (KS) is a rare, heterogeneous disorder consisting of congenital hypogonadotropic hypogonadism, associated with anosmia (or hyposmia) and other clinical manifestations such as mirror movements, and renal, urological and neurosensory disorders.
0 kommentar(er)
