Article
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review.
Birth defects research - 1 Aug 2022
Romano Ferruccio, Falco Mariateresa, Cappuccio Gerarda, Brunetti-Pierri Nicola, Lonardo Fortunato, Torella Annalaura, Digilio Maria Cristina, Dentici Maria Lisa, Alfieri Paolo, Agolini Emanuele, Novelli Antonio, Garavelli Livia, Accogli Andrea, Striano Pasquale, Scarano Gioacchino, Nigro Vincenzo, Scala Marcello, Capra Valeria
Abstract excerpt
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA-binding motif-containing 1 gene (AHDC1), encoding a protein with a crucial role in transcription and epigenetic regulation, axonogenesis, brain function, and neurodevelopment. AHDC1 variants possibly act through a dominant-negative mechanism and may interfere with DNA repair processes,...
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