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, leading to genome instability and impaired DNA translesion repair. Variants affecting residues closer to the N-terminal are thought to determine a milder phenotype with better cognitive performances. However, clean-cut genotype-phenotype correlations are still lacking.
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review / Romano, F., Falco, M., Cappuccio, G., Brunetti-Pierri, N., Lonardo, F., Torella, A., Digilio, M.C., Dentici, M.L., Alfieri, P., Agolini, E., Novelli, A., Garavelli, L., Accogli, A., Striano, P., Scarano, G., Nigro, V., Scala, M., Capra, V.. - In: BIRTH DEFECTS RESEARCH. - ISSN 2472-1727. - 114:13(2022), pp. 759-767. [10.1002/bdr2.2058]
Genotype-phenotype spectrum and correlations in Xia-Gibbs syndrome: Report of five novel cases and literature review
Cappuccio, Gerarda;Brunetti-Pierri, Nicola;Novelli, Antonio;Striano, Pasquale;Scarano, Gioacchino;Nigro, Vincenzo;Scala, Marcello;
2022
Abstract
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, leading to genome instability and impaired DNA translesion repair. Variants affecting residues closer to the N-terminal are thought to determine a milder phenotype with better cognitive performances. However, clean-cut genotype-phenotype correlations are still lacking.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
