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

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

Mary García-Acero  1 , Johanna Acosta  2
Affiliations

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

Mary García-Acero et al. Mol Syndromol. 2017 Nov.

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.

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Figures

Fig. 1
Fig. 1
a Patient at the age of 5 years. Facial features showing midfacial hypoplasia, hypertelorism, micrognathia, epicanthic fold, prominent teeth, and upslanting palpebral fissures. b Brain MRI showing frontal and temporal cortical atrophy, with loss of posterior ventricular white matter (arrows).
See this image and copyright information in PMC

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