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

Abstract

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.

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing

“…Initially called ADMLX (adhesion molecule-like, X-linked) (35) or KALIG-1/KALIG1 (36), then KAL1 (12,69), and finally ANOS1 in the most recent nomenclature (2,70; https://www.omim.org/entry/300836). KAL1/ANOS1 is located on the short arm of the X chromosome in region Xp22.3, consistent with X-linked transmission (2,12,(35)(36)(37)(38)69,70). It comprises 14 exons and encodes a 680-amino-acid protein (12,69).…”

“…In familial forms, heterozygous women are always asymptomatic carriers (2,12,(69)(70)(71)(72). However, one series identified 10 women harboring variants.…”

“…Other signs associated with this genetic form, such as mirror movements (also called bimanual synkinesis) and renal agenesis, are frequent, but they do not always cosegregate with the mutation identified in a given family (69,70,(71)(72)(73)(74)(75)(76), for reasons that are still not clear. Other, rarer associated signs such as deafness (35)(36)(37)(38)(69)(70)(71)(72)(73)(74)(75)(76) and vas deferens agenesis, have been described in men with KAL1/ANOS1 mutations (69-74) but their inconsistent presence remains unexplained.…”

“…Other, rarer associated signs such as deafness (35)(36)(37)(38)(69)(70)(71)(72)(73)(74)(75)(76) and vas deferens agenesis, have been described in men with KAL1/ANOS1 mutations (69-74) but their inconsistent presence remains unexplained. Some patients with X-linked KS have large deletions in chromosome region Xp22.3, removing several adjacent genes.…”

Anosmin-1 is essential for neural crest and cranial placodes formation in Xenopus

“…Ansomin-1 (Anos1, formerly Kal1; [30]), an extracellular matrix protein, was independently isolated in two microarray screens designed to identify targets of Pax3 and Zic1 [13,31]. Both transcription factors are necessary and sufficient to specify the neural crest and placodes [7–9].…”