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

doi:10.1159/000479357

. 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-Acero¹, Johanna Acosta²

Affiliations

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

PMID: 29230160
PMCID: PMC5701272
DOI: 10.1159/000479357

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.

. 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.

PMID: 29230160
PMCID: PMC5701272
DOI: 10.1159/000479357

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**
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).

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[1] ACMG Board of Directors Points to consider in the clinical application of genomic sequencing. Genet Med. 2012;14:759–761. - PubMed

[2] ACMG Board of Directors Points to consider in the clinical application of genomic sequencing. Genet Med. 2012;14:759–761. - PubMed

[3] Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–249. - PMC - PubMed

[4] Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–249. - PMC - PubMed

[5] Aravind L, Landsman D. AT-hook motifs identified in a wide variety of DNA-binding proteins. Nucleic Acids Res. 1998;26:4413–4421. - PMC - PubMed

[6] Aravind L, Landsman D. AT-hook motifs identified in a wide variety of DNA-binding proteins. Nucleic Acids Res. 1998;26:4413–4421. - PMC - PubMed

[7] Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, et al. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016;24:660–665. - PMC - PubMed

[8] Bosch DG, Boonstra FN, de Leeuw N, Pfundt R, Nillesen WM, et al. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016;24:660–665. - PMC - PubMed

[9] Calabrese R, Capriotti E, Fariselli P, Martelli P, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat. 2009;30:1237–1244. - PubMed

[10] Calabrese R, Capriotti E, Fariselli P, Martelli P, Casadio R. Functional annotations improve the predictive score of human disease-related mutations in proteins. Hum Mutat. 2009;30:1237–1244. - PubMed

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

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

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