DYRK1A-related intellectual disability syndrome

Abstract

DYRK1A-related intellectual disability syndrome is an autosomal dominant disorder characterized by intellectual disability including impaired speech development, autism spectrum disorder, and microcephaly. Affected individuals often have a clinically recognizable phenotype including typical craniofacial dysmorphism, feeding problems, hypertonia, short stature, gait disturbances, and foot anomalies. Other medical concerns relate to febrile seizures in infancy with later development of epilepsy. This case report aims to present a case of a three-year-old girl with DYRK1A syndrome. Since there were no additional diagnostic methods available and the cause of the intellectual disability remained unexplained, we decided to perform whole-exome sequencing (WES). WES led to the identifi-cation of heterozygous pathogenic variant p.R205* in DYRK1A gene and enabled us to reach a causal diagnosis in a reasonable time frame. We can conclude, that WES is an efficient diagnostic approach to identify causative genetic variants for syndromes associated with intellectual disability.