Paternally inherited 17q12 microduplication: similar pattern of neurological signs and features in the father and his children

Abstract

Clinically, 17q12 chromosomal duplication has been associated with a wide variety of phenotypes, ranging from normal individuals to patients with various, complex anomalies. The variable phenotypes of the 17q12 duplication have been suggested to be the result of incomplete penetrance and variable expressivity of the duplication. Three genes have been implicated as playing a role in the pathogenesis of this genetic anomaly: HFN1 (also known as TCF2), ACACA, and in particular LHX1, which has an important role in the early neuronal development. This molecular anomaly has been uncommonly reported. A genotype/phenotype correlation has not yet been well established. Here, we present a clinical report on a family, a father and his two children, harboring a 17q12 microduplication. Both children presented with a similar pattern of clinical signs and features, including typical absence seizures, movement and behavioral disorders, mild facial dysmorphisms, and mild intellective disability. Some of these anomalies were also present in the father, who had suffered from episodes of generalized tonic-clonic epilepsy in his childhood and shows clinical signs of movement and behavioral disorders that started at the age of 11 years.