Neuromyelitis optica-related disorder (NMORD) consists of a spectrum of diseases characterized by recurrent optic neuritis and/or myelitis, with most cases being associated with a pathogenic antibody against aquaporin-4 (AQP4-Abs) or antibodies targeting the myelin oligodendrocyte glycoprotein (MOG-Abs).
Multiple sclerosis (MS) is an inflammatory disease affecting the central nervous system that causes damage to myelin, neurons and axons, and which results in neurodegeneration. Identification of useful blood biomarkers for MS is still a challenge.
Sequencing of a total of 16 individuals from 4 multiplex families representing rare and diverse anorectal malformation (ARM) types, as well as 3 surgically resected tissue specimens, resulted in the identification of a novel paternally inherited heterozygous CDX2 variant [c.722A>G (p.Glu241Gly)].
The Undiagnosed Diseases Network uncovered three unrelated individuals with mutations in the gene encoding serine palmitoyltransferase small subunit A (SPTSSA).
Recent findings have unveiled some integrins are associated with Mendelian conditions. In a recent study, researchers directed efforts toward studying integrin-beta 8 (ITGB8) and its association with pathology, especially with neurological pathology, as none of them have been linked to neuropathology to date.
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