Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders


Tthe ANOS1 gene encodes a protein involved in regulation of neuron functions such as cell adhesion and axonal migration. Mutations cause x-liked recessive Kallmann syndrome.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Congenital hypogonadotropic hypogonadism with anosmia 1



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


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


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


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


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


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


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


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.


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


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


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


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


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


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


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.


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.


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


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


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.


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


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


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.


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


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


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.


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.


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

Update: Sept. 26, 2018