Document Type : Case Report(s)

Authors

• Lorena Díaz-Ordoñez ¹
• Diana Ramirez-Montaño ¹
• Estephania Candelo ¹
• Santiago Cruz ²
• Harry Pachajoa ³

¹ Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia

² Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Universidad Icesi, Cali, Colombia; and Department of Genetics, Fundación Valle del Lili, Cali, Colombia

³ Department of Genetics, Fundación Valle del Lili, Cali, Colombia

Abstract

Mutations in the AHDC1 gene are associated with the Xia-Gibbs syndrome (XGS), a sporadic genetic disorder characterised by developmental delay, intellectual disability, hypotonia, obstructive sleep apnoea, dysmorphic facial features, and cerebral malformations with plagiocephaly. Here we report the case of a 13-year-old Colombian female patient with a history of developmental delay, speech delay, sleep disturbances, and dysmorphic craniofacial features. The whole exome sequencing (WES) test revealed a novel de novo heterozygous frameshift mutation in AHDC1. The present case report describes the second case of mutations in AHDC1 in a Latin American patient. A literature review showed that the clinical features were similar in all reported patients. The WES test enabled the identification of the causality of this disorder characterised by high clinical and genetic heterogeneity.

Keywords

• Developmental disabilities
• Whole exome sequencing
• Frameshift mutations