Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Kongenitaler hypogonadotroper Hypogonadismus mit Anosmie 1
ANOS1

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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.

[^]
9.

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

[^]
10.

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

[^]
11.

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

[^]
12.

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

[^]
13.

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

[^]
14.

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

[^]
15.

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.

[^]
16.

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.

[^]
17.

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

[^]
18.

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

[^]
19.

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.

[^]
20.

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

[^]
21.

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

[^]
22.

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.

[^]
23.

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

[^]
24.

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

[^]
25.

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.

[^]
26.

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.

[^]
27.

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

[^]

 

 
Ihre Nachricht: