Balkan Journal of Medical Genetics

CLINICAL NEXT GENERATION SEQUENCING REVEALS AN H3F3A GENE AS A NEW POTENTIAL GENE CANDIDATE FOR MICROCEPHALY ASSOCIATED WITH SEVERE DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND GROWTH RETARDATION
Maver A1, Čuturilo G2,3, Ruml Stojanović J3, Peterlin B1,*
*Corresponding Author: Professor Borut Peterlin, Clinical Institute of Genomic Medicine, University Medical Center Ljubljana, Šlajmerjeva 4, 1000 Ljubljana, Slovenia. Tel: +38615401137. E-mail: borut.peterlin@kclj.si
page: 65

CLINICAL REPORT

The proband is a girl, the only child born to healthy Caucasian, non consanguineous, healthy parents, who were at the time of birth 26 (mother) and 29 (father) years old. The pregnancy was uneventful, with no evidence of infection, drug exposure or radiation. Delivery was at the 41st week of pregnancy by cesarean section due to the breech presentation. At birth, the proband weighed 2550 g, 4th centile, 46 cm, 4th centile and head circumference 33 cm, 5th centile. She was hypotonic and had slight transitory breathing problems with no malformations except small (3 mm), hemodynamically insignificant atrial septum defect. Magnetic resonance imaging (MRI) demonstrated hypoplasia of corpus callosum and cerebellum as well as thin layer of frontal and parietal periventricular gliosis. Visual evoked potentials demonstrated abnormal cortical responses with low amplitudes, suggesting a dysfunction of afferent optical system. At age 5, the proband weighed 16.5 kg, 10th centile, height of 94 cm, p <1st centile, and head circumference 45.5 cm, p <1st centile. She has severe global developmental delay, she is able to sit independently, but has not developed walking or speech. Her social interaction is poor. She has a wide, depressed nasal bridge, hypertelorism, hypotonic face, poorly formed, posteriorly set ears (Figure 1) and mild flexion contractures of fingers.

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