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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Authors :
Krzysztof Szczałuba
Ewa Obersztyn
Krystyna Szymańska
Agnieszka Lugowska
Urszula Demkow
Marek Radkowski
Jolanta Tryfon
Beata Nowakowska
Katarzyna Kuśmierska
Source :
BioMed Research International, Vol 2014 (2014), BioMed Research International
Publication Year :
2014
Publisher :
Hindawi Limited, 2014.

Abstract

Inherited encephalopathies include a broad spectrum of heterogeneous disorders. To provide a correct diagnosis, an integrated approach including genetic testing is warranted. We report seven patients with difficult to diagnose inborn paediatric encephalopathies. The diagnosis could not be attained only by means of clinical and laboratory investigations and MRI. Additional genetic testing was required. Cytogenetics, PCR based tests, and array-based comparative genome hybridization were performed. In 4 patients with impaired language abilities we found the presence of microduplication in the region 16q23.1 affecting two dose-sensitive genes:WWOX(OMIM 605131) andMAF(OMIM 177075) (1 case), an interstitial deletion of the 17p11.2 region (2 patients further diagnosed as Smith-Magenis syndrome), and deletion encompassing first three exons of Myocyte Enhancer Factor gene2MEF2C(1 case). The two other cases represented progressing dystonia. Characteristic GAG deletion inDYT1consistently with the diagnosis of torsion dystonia was confirmed in 1 case. Last enrolled patient presented with clinical picture consistent with Krabbe disease confirmed by finding of two pathogenic variants ofGALCgene and the absence of mutations inPSAP. The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper.

Details

ISSN :
23146141 and 23146133
Volume :
2014
Database :
OpenAIRE
Journal :
BioMed Research International
Accession number :
edsair.doi.dedup.....9f3c42466a408d085d982c9e23465deb
Full Text :
https://doi.org/10.1155/2014/424796