Karger Publishers, Molecular Syndromology, 1(11), p. 24-29, 2020
DOI: 10.1159/000505843
Full text: Unavailable
Xia-Gibbs syndrome (XGS) is a rare neurological disorder characterized by global developmental delay, hypotonia, intellectual disability, seizures, and sleep apnea. XGS is defined by monoallelic pathogenic variants in <i>AHDC1</i>. In this study, we identified a Brazilian patient carrying a likely de novo <i>AHDC1</i> nonsense mutation (c.451C>T; p.Arg151*) which was absent in both parents. All disease-causative variants already associated with XGS have been reviewed and the mutation described here corresponds to the closest one to the N-terminal region. Our findings were discussed based on the suggested genotype-phenotype correlation of the disease.