| Institution: | 1. Department of Genetics, Wroclaw Medical University, Wroclaw, Poland;2. Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland;3. Postgraduate School of Molecular Medicine, Warsaw Medical University, Warsaw, Poland;4. Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland;5. Department of Medical Informatics and Telemedicine, Warsaw Medical University, Warsaw, Poland;6. University Children''s Hospital of Cracow, Poland;7. Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland |
| Abstract: | Mapping of de novo balanced chromosomal translocations (BCTs) in patients with sporadic poorly characterized disease(s) is an unbiased method of finding candidate gene(s) responsible for the observed symptoms. We present a paediatric patient suffering from epilepsy, developmental delay (DD) and atrial septal defect IIº (ASD) requiring surgery. Karyotyping indicated an apparently balanced de novo reciprocal translocation 46,XX,t(3;4)(p25.3;q31.1), whereas aCGH did not reveal any copy number changes. Using shallow mate-pair whole genome sequencing and direct Sanger sequencing of breakpoint regions we found that translocation disrupted SLC6A1 and NAA15 genes. Our results confirm two previous reports indicating that loss of function of a single allele of SLC6A1 causes epilepsy. In addition, we extend existing evidence that disruption of NAA15 is associated with DD and with congenital heart defects. |
