Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. Cardoso-Dos-Santos, A., C., Oliveira Silva, T., Silveira Faccini, A., Woycinck Kowalski, T., Bertoli-Avella, A., Morales Saute, J., A., Schuler-Faccini, L., & De Oliveira Poswar, F. Molecular Syndromology, 11(1):24-29, 2, 2020. ![Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome [link]](https://bibbase.org/img/filetypes/link.svg "link")
Website doi abstract bibtex 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 AHDC1 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.
@article{
title = {Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome},
type = {article},
year = {2020},
keywords = {Exome sequencing,Intellectual disability,Neurodevelopmental disorders,Novel mutation,Sanger sequencing},
pages = {24-29},
volume = {11},
websites = {https://www.karger.com/Article/FullText/505843},
month = {2},
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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 AHDC1 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.},
bibtype = {article},
author = {Cardoso-Dos-Santos, Augusto C. and Oliveira Silva, Thiago and Silveira Faccini, Anderson and Woycinck Kowalski, Thayne and Bertoli-Avella, Aida and Morales Saute, Jonas A. and Schuler-Faccini, Lavinia and De Oliveira Poswar, Fabiano},
doi = {10.1159/000505843},
journal = {Molecular Syndromology},
number = {1}
}
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