TAOK1: de novo variant associated with craniofacial dysmorphism, short stature, and delayed motor development

Widespread use of exome sequencing is leading to the knowledge of chromosomic anomalies related to neural development disorders. The TAOK1 gen in chormosome 17 is involved in kinases syntehsis, have a role in many celular processes and is known to take part in neural migration. Variants of TAOK1 gen, being recently reported, are associated to neurodevelopmental disorders, and behavioral disturbances. Likewise, dismorphic features, microcephaly, hipotonia, feeding difficulties and growth retardation have been correlated. We contribute with our case, de novo variant in TAOK1 gene, presenting with macrocephaly, facial dismorphia, short stature and motor delay development.