The Adhesion Molecule Anosmin-1 in Neurology: Kallmann Syndrome and Beyond

Castro, Fernando de; Esteban, Pedro F.; Bribián, Ana; Murcia‐Belmonte, Verónica; García‐González, Diego; Clemente, Diego

doi:10.1007/978-1-4614-8090-7_12

Cited by 22 publications

(24 citation statements)

References 104 publications

(141 reference statements)

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“…Some variants of ANOS1 disrupt this process, thus causing Kallmann syndrome (Hu et al ., ). Other alterations of ANOS1 have been found associated with other conditions inside and outside the central nervous system, such as multiple sclerosis and atopic dermatitis (de Castro et al ., ).…”

Section: Discussionmentioning

confidence: 97%

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

et al. 2017

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Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing. Potentially pathogenic variants were filtered and prioritized followed by validation by Sanger sequencing in the two brothers and their mother. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T; both brothers were hemizygous, and their mother was heterozygous for the variant. The variant is a single nucleotide change that introduces a stop codon in exon 9 (p.R423*), likely producing a truncated variant of the protein. This variant has only been reported twice in the literature, in the setting of finding genetic causes for other conditions. This result supports the clinical value of whole exome sequencing for identification of genetic pathogenic variants. Genetic diagnosis is the essential first step for genetic counseling, preimplantation diagnosis, and research for a potential treatment.

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Section: Discussionmentioning

confidence: 97%

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

et al. 2017

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“…This syndrome is also characterized by anosmia. Anosmin‐1, a glycoprotein encoded by the KAL1 gene, has been reported to be defective in human Kallmann syndrome (Soussi‐Yanicostas et al, ; de Castro et al, ). These findings suggest a role for the nervus terminalis in the development of the hypothalamic–pituitary–gonadal axis in humans (Fuller and Burger, ; Wirsig‐Wiechmann et al, ).…”

Section: Function and Pathology Of The Nervus Terminalismentioning

confidence: 99%

Cranial Pair 0: The Nervus Terminalis

Peña-Melián

Rosa

Gallardo-Alcaniz

et al. 2018

The Anatomical Record

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Originally discovered in elasmobranchs by Fritsh in 1878, the nervus terminalis has been found in virtually all species, including humans. After more than one-century debate on its nomenclature, it is nowadays recognized as cranial pair zero. The nerve mostly originates in the olfactory placode, although neural crest contribution has been also proposed. Developmentally, the nervus terminalis is clearly observed in human embryos; subsequently, during the fetal period loses some of its ganglion cells, and it is less recognizable in adults. Fibers originating in the nasal cavity passes into the cranium through the middle area of the cribiform plate of the ethmoid bone. Intracranially, fibers joint the telencephalon at several sites including the olfactory trigone and the primordium of the hippocampus to reach preoptic and precommissural regions. The nervus terminalis shows ganglion cells, that sometimes form clusters, normally one or two located at the base of the crista galli, the so-called ganglion of the nervus terminalis. Its function is uncertain. It has been described that its fibers facilitates migration of luteinizing hormone-releasing hormone cells to the hypothalamus thus participating in the development of the hypothalamic-gonadal axis, which alteration may provoke Kallmann's syndrome in humans. This review summarizes current knowledge on this structure, incorporating original illustrations of the nerve at different developmental stages, and focuses on its anatomical and clinical relevance. Anat Rec, 2018. © 2018 Wiley Periodicals, Inc.

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“…Although different putative interacting proteins for anosmin-1 have been described to date, the mechanism of action of this protein remains far from completely characterized. FGFR1, heparan sulphates, syndecan, glypicans, as well as different components of the extracellular matrix (uPA, fibronectin, laminin, integrin-beta, anosmin-1 itself—in many of these cases, the activity seems totally independent of FGF2–FGFR1 signaling) are able to interact with anosmin-1 either alone or, occasionally (this is the case of FGFR1 and heparan sulphate), together and with different results [ 23 , 28–30 ]. Among them, FGFR1 is undoubtedly the most studied because mutations in FGFR1 gene ( KAL2 ) are responsible for the autosomal dominant form of KS [ 16 ].…”

Section: Anosmin-1mentioning

confidence: 99%

“…The ANOS1 gene is largely conserved from invertebrates to primates including some rodents ( Table 1 ). It is peculiar to note that although human ANOS1 gene product has been found to be functional in mice cells and tissues [ 21 , 22 ], its immunoreactivity has been detected in rat tissue, using an antibody for the human protein, and human and mice share about 99% of genes; no KAL1 ortholog in mouse and rat has been so far identified [ 23 ], making a more complete genetic analysis of the role of ANOS1 in biological processes using classical rodent models not possible.…”

Section: Introductionmentioning

confidence: 99%

ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1

Castro¹,

Seal²,

Maggi³

2016

Briefings in Functional Genomics

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It is accepted that confusion regarding the description of genetic variants occurs when researchers do not use standard nomenclature. The Human Genome Organization Gene Nomenclature Committee contacted a panel of consultants, all working on the KAL1 gene, to propose an update of the nomenclature of the gene, as there was a convention in the literature of using the ‘KAL1’ symbol, when referring to the gene, but using the name ‘anosmin-1’ when referring to the protein. The new name, ANOS1, reflects protein name and is more transferrable across species.

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The Adhesion Molecule Anosmin-1 in Neurology: Kallmann Syndrome and Beyond

Cited by 22 publications

References 104 publications

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

A rare ANOS1 variant in siblings with Kallmann syndrome identified by whole exome sequencing

Cranial Pair 0: The Nervus Terminalis

ANOS1: a unified nomenclature for Kallmann syndrome 1 gene (KAL1) and anosmin-1

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