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Novel AHDC1Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
- Source :
- Molecular Syndromology; February 2020, Vol. 11 Issue: 1 p24-29, 6p
- Publication Year :
- 2020
-
Abstract
- 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 AHDC1. In this study, we identified a Brazilian patient carrying a likely de novo AHDC1nonsense 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.
Details
- Language :
- English
- ISSN :
- 16618769 and 16618777
- Volume :
- 11
- Issue :
- 1
- Database :
- Supplemental Index
- Journal :
- Molecular Syndromology
- Publication Type :
- Periodical
- Accession number :
- ejs52350374
- Full Text :
- https://doi.org/10.1159/000505843