Maria Luisa Carpanelli

TL;DR: A robust relationship between mutations in all seven genes with increased type I interferon activity in cerebrospinal fluid and serum, and the increased expression of interferOn‐stimulated gene transcripts in peripheral blood is observed.

TL;DR: Mutations in ADAR1 are associated with a variety of clinically distinct neurological phenotypes presenting from early infancy to adulthood, inherited either as an autosomal recessive or dominant trait, and testing for an interferon signature in blood represents a useful biomarker in this context.

TL;DR: This is the first case in which the characterization at the cytogenetic molecular level of a patient with these phenotypes is reported, and observations indicate that preaxial polydactyly may be another feature of the W AGR syndrome and suggest the existence of a related gene in the WAGR critical region or in its proximity.