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

Yıl 2016, Cilt: 8 , - , 01.12.2016

Piero Pavone Andrea Domenico Praticò Raffaele Falsaperla Nicola Beltrami Alberto Verrotti Martino Ruggieri

Öz

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.

Anahtar Kelimeler

17q12 microduplication; absence seizures; movement disorders; ADHD; familial epilepsy

Kaynakça

• Bertini V, Orsini A, Bonuccelli A, Cambi F, Del Pistoia M, Vannozzi I, et al. 17q12 microduplications: a challenge for clinicians. Am J Med Genet A 2015; 167A(3):674-6.