Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
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ABSTRACT:
SUBMITTER: Garcia-Acero M
PROVIDER: S-EPMC5701272 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
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Whole-Exome Sequencing Identifies a de novo <i>AHDC1</i> Mutation in a Colombian Patient with Xia-Gibbs Syndrome.
García-Acero Mary M Acosta Johanna J
Molecular syndromology 20170908 6
Xia-Gibbs syndrome is an autosomal dominant multisystem developmental disorder characterized by global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cysts, delayed myelination, micrognathia, and mild dysmorphic features. Using whole-exome sequencing, we identified a de novo <i>AHDC1</i> frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents. Furthermore, we summarized the phenotypes of patients reported in ...[more]
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