Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Anosmin-1

Das ANOS1-Gen kodiert eine Protein, welches an der Steuerung von Nervenzellen wie Adhäsionen und Axonwachstum beteiligt ist. Mutationen führen zu x-chromosomal rezessivem Kallmann-Syndrom 1.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
ANOS1

Referenzen:

1.

Trarbach EB et al. (2006) Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia.

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2.

Cariboni A et al. (2004) The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

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3.

Söderlund D et al. (2002) Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome.

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4.

Soussi-Yanicostas N et al. (2002) Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons.

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5.

Bülow HE et al. (2002) Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1.

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6.

Maya-Nuñez G et al. (1998) A recurrent missense mutation in the KAL gene in patients with X-linked Kallmann's syndrome.

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7.

Rugarli EI et al. (1996) The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component.

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8.

Soussi-Yanicostas N et al. (1996) Initial characterization of anosmin-1, a putative extracellular matrix protein synthesized by definite neuronal cell populations in the central nervous system.

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9.

Legouis R et al. (1993) Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome.

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10.

Franco B et al. (1991) A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

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11.

Legouis R et al. (1991) The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

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12.

Woods-Samuels P et al. (1991) Nonhomologous recombination in the human genome: deletions in the human factor VIII gene.

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13.

Bernatowicz LF et al. (1992) Sequence analysis of a partial deletion of the human steroid sulfatase gene reveals 3 bp of homology at deletion breakpoints.

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14.

Incerti B et al. (1992) Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes.

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15.

del Castillo I et al. (1992) Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.

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16.

Dodé C et al. (2006) Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

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17.

Sato N et al. (2004) Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

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18.

Massin N et al. (2003) X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

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19.

Oliveira LM et al. (2001) The importance of autosomal genes in Kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics.

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20.

Maya-Núñez G et al. (1998) Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene.

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21.

Georgopoulos NA et al. (1997) Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency.

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22.

Hardelin JP et al. (1993) Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

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23.

Parenti G et al. (1995) Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene.

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24.

Bick D et al. (1992) Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

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25.

Hardelin JP et al. (1992) X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

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26.

Hanchate NK et al. (2012) SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome.

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27.

Dodé C et al. (2003) Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

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28.

Orphanet article

Orphanet ID 122751 external link
29.

NCBI article

NCBI 3730 external link
30.

OMIM.ORG article

Omim 300836 external link
Update: 14. August 2020
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