Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Mary García-Acero; Johanna Acosta

doi:10.1159/000479357

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Mol Syndromol. 2017 Nov;8(6):308-312. doi: 10.1159/000479357. Epub 2017 Sep 8.

Authors

Mary García-Acero¹, Johanna Acosta²

Affiliations

¹ Instituto de Genética Humana, Pontificia Universidad Javeriana, Bogotá, Colombia.
² Roosevelt Pediatric Orthopedic Institute, Bogotá, Colombia.

Abstract

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 AHDC1 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 the literature.

Keywords: AHDC1 mutation; Whole-exome sequencing; Xia-Gibbs syndrome.