Bertrand Chesneau, Patrick Calvas, Myriam Cassagne, Fanny Varenne, Jean-Michel Rozet, Fabrice Bonneville, Nicolas Chassaing, Pierre Fournié, Lucas Fares-Taie, Julie Plaisancié
The association of early-onset non-progressive ataxia and miosis is an extremely rare phenotypic entity occasionally reported in the literature. To date, only one family (two siblings and their mother) has benefited from a genetic diagnosis by the identification of a missense heterozygous variant (p.Arg36Cys) in the ITPR1 gene. This gene encodes the inositol 1,4,5-trisphosphate receptor type 1, an intracellular channel that mediates calcium release from the endoplasmic reticulum. Deleterious variants in this gene are known to be associated with two types of spinocerebellar ataxia, SCA15 and SCA29, and with Gillespie syndrome that is associated with ataxia, partial iris hypoplasia, and intellectual disability...
May 6, 2024: American Journal of Medical Genetics. Part A