Idiopathic scoliosis (IS) is the most common spinal deformity in children, and its etiology is unknown. To refine the search for genes underlying IS susceptibility, we ascertained a new cohort of 52 families and conducted a follow-up study of genomewide scans that produced evidence of linkage and association with 8q12 loci (multipoint LOD 2.77; P=.0028). Further fine mapping in the region revealed significant evidence of disease-associated haplotypes (P<1.0 x 10-4) centering over exons 2-4 of the CHD7 gene associated with the CHARGE (coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities and deafness) syndrome of multiple developmental anomalies. Resequencing CHD7 exons and conserved intronic sequence blocks excluded coding changes but revealed at least one potentially functional polymorphism that is overtransmitted (P=.005) to affected offspring and predicts disruption of a caudal-type (cdx) transcription-factor binding site. Our results identify the first gene associated with IS susceptibility and suggest etiological overlap between the rare, early-onset CHARGE syndrome and common, later-onset IS.

Persistence of various symptoms in patients who recovered from COVID-19 was recently defined as long COVID or post-COVID syndrome (PCS). We report a case of a 58-year-old woman who, although recovering from COVID-19, has novel and persistent symptoms such as neurological complications, not explained by another cause apart from PCS. In addition to a low inflammatory response, we found a persistence of IgG aCL positivity and eosinopenia, one year after the COVID-19 acute infection, both previously defined as independent factors associated with disease severity. The pathophysiological mechanism of PCS is not known, but the possibility of persistence of the virus, especially in the nervous system, could be suggested, with a post-infectious inflammatory or autoimmune reaction.

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