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The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders
- 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.
- Subjects :
- Male
medicine.medical_specialty
Article Subject
Adolescent
Cytodiagnosis
lcsh:Medicine
Biology
medicine.disease_cause
General Biochemistry, Genetics and Molecular Biology
Torsion dystonia
Genes, Duplicate
medicine
Humans
Genetic Testing
Child
Sequence Deletion
Genetic testing
Genetics
Dystonia
Comparative Genomic Hybridization
Mutation
General Immunology and Microbiology
medicine.diagnostic_test
Brain Diseases, Metabolic
lcsh:R
Cytogenetics
General Medicine
medicine.disease
Child, Preschool
Hereditary Diseases
Clinical Study
Krabbe disease
Female
Chromosomes, Human, Pair 16
Comparative genomic hybridization
Subjects
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