Article
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Clinical genetics - 1 Dec 2025
Sennes Maísa Ganz Sanchez, Carvalho Laura Machado Lara, Castro Matheus Augusto Araújo, Toccoli Giovana Manilli, Farias Sofia de Oliveira, Fialho Davi Mendes Campo, Bertollo Eny Maria Goloni, Pavarino Erika Cristina, de Athayde Larissa Sampaio, Buck Cecilia Barbosa, Toralles Maria Betânia Pereira, Melaragno Maria Isabel, Riegel-Giugliani Mariluce, Spolador Gustavo Marquezani, Otto Paulo Alberto, Piai Caroline Brandão, Kok Fernando, Cechella Ceres Schmitz, Rosenberg Carla, Llerena Juan Clinton, Bertola Débora Romeo, Raskin Salmo, Kim Chong Ae, Krepischi Ana Cristina Victorino
Abstract excerpt
Xia-Gibbs syndrome (XGS) is a rare intellectual disability (ID) syndrome caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. Patient data were collected through semistructured interviews with family members, reanalysis of previous health and genetic assessments, and clinical reports from physicians. Genomic variants and their segregation...
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