Affiliations: Department of Human Genetics, Nijmegen Centre for
Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen,
The Netherlands | Department of Pediatric Neurology, Radboud University
Nijmegen Medical Centre, Nijmegen, The Netherlands
Note: [] Correspondence: Mariken Ruiter, Department of Human Genetics,
Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen
Medical Centre, Nijmegen, The Netherlands. Tel.: +31 0 243613946; Fax: +31 0
243668753; E-mail: m.ruiter@antrg.umcn.nl
Abstract: The infantile epileptic encephalopathies are a heterogeneous group
of disorders where in about 30% of cases the cause remains unknown.
Chromosomal aberrations, identified by karyotype analysis, constitute one of
the major causes for these disorders. The new molecular cytogenetic techniques
such as fluorescence in situ hybridization, multiplex ligation-dependent probe
amplification (MLPA) and single nucleotide polymorphism array analyses may
allow us to discover additional submicroscopic chromosomal rearrangements in
this group of patients. Herein, we describe a girl with infantile epileptic
encephalopathy. Fluorescence in situ hybridization, MLPA and single nucleotide
polymorphism array analyses revealed a microdeletion and microduplication at
the 1p36 region. Because of that, we further screened a cohort of 38 patients
with infantile epileptic encephalopathy by using MLPA analysis to exclude the
presence of subtelomeric microdeletions or microduplications. One patient was
shown to harbor a microduplication at 11q25, which is however most likely a
benign copy number variant derived from the healthy mother. No disease-causing
dose changes were identified, indicating that unbalanced rearrangements at the
subtelomeric regions may not be a common cause for infantile epileptic
encephalopathy. However, when the patient has infantile epileptic
encephalopathy and other features such as dysmorphic facies or major congenital
anomalies, molecular cytogenetic analysis is warranted.
