The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders
Joint Authors
Tryfon, Jolanta
Demkow, Urszula
Kuśmierska, Katarzyna
Ługowska, Agnieszka
Radkowski, Marek
Szczałuba, Krzysztof
Obersztyn, Ewa
Nowakowska, Beata A.
Szymańska, Krystyna
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-8, 8 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-05-13
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
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) and MAF (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 gene 2MEF2C (1 case).
The two other cases represented progressing dystonia.
Characteristic GAG deletion in DYT1 consistently 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 of GALC gene and the absence of mutations in PSAP.
The integrated diagnostic approach including genetic testing in selected examples of complicated hereditary diseases of the brain is largely discussed in this paper.
American Psychological Association (APA)
Szymańska, Krystyna& Szczałuba, Krzysztof& Ługowska, Agnieszka& Obersztyn, Ewa& Radkowski, Marek& Nowakowska, Beata A.…[et al.]. 2014. The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders. BioMed Research International،Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-471129
Modern Language Association (MLA)
Szymańska, Krystyna…[et al.]. The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders. BioMed Research International No. 2014 (2014), pp.1-8.
https://search.emarefa.net/detail/BIM-471129
American Medical Association (AMA)
Szymańska, Krystyna& Szczałuba, Krzysztof& Ługowska, Agnieszka& Obersztyn, Ewa& Radkowski, Marek& Nowakowska, Beata A.…[et al.]. The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-8.
https://search.emarefa.net/detail/BIM-471129
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-471129