Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant

Xia-Gibbs syndrome (XGS) is a relatively new genetic disorder characterized by significant intellectual disability [1]. Other signs and symptoms include global developmental delay, hypotonia, sleep apnea and seizures. About 100 patients worldwide have been identified, all of them in the pediatric age or adulthood. To date, no fetal XGS has been reported. We here report a family with recurrent fetal dysplasia of corpus callosum due to XGS caused by maternal germline mosaicism of an AHDC1 variant.
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research