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Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.

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.

SUBMITTER: Cardoso-Dos-Santos AC

PROVIDER: S-EPMC7109424 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature

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Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome.

Cardoso-Dos-Santos Augusto C AC Oliveira Silva Thiago T Silveira Faccini Anderson A Woycinck Kowalski Thayne T Bertoli-Avella Aida A Morales Saute Jonas A JA Schuler-Faccini Lavinia L de Oliveira Poswar Fabiano F

Molecular syndromology 20200201 1

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 h ...[more]

PMID: 32256298

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