Arthrogryposis multiplex congenita, neurogenic, with myelin defect

Definition:

Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination to neonatal death to milder form with distal arthrogryposis, areflexia, developmental delay, and other variable features.

References:

[1]. Shifeng Xue, et al. Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita. Am J Hum Genet. 2017 Apr 6;100(4):659-665. [Content Brief]

[2]. Shivani Mishra, et al. A mild phenotype of LGI4-Related arthrogryposis multiplex congenita with intrafamilial variability. Eur J Med Genet. 2020 Mar;63(3):103756. [Content Brief]

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