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A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient Cover

A Novel splice-site mutation on the MLC1 gene leading to exon 9 skipping and megalencephalic leukoencephalopathy with subcortical cysts in a Turkish patient

Balkan Journal of Medical Genetics
Volume 22 (2019): Issue 2 (November 2019)
By: A Türkyılmaz,  O Ünver,  G Ekinci and  D Türkdoğan  
Open Access
|Dec 2019

Figures & Tables

Figure 1

(a) Axial T2 weighted MRI shows bilateral, diffuse, symmetric hyperintense lesions in the cerebral white matter. (b) Axial T1 weighted MRI shows bilateral temporal cysts.

Figure 2

(A) Integrative Genomics Viewer (IGV) sequence data of the parents showed heterozygous c.768+ 2T>C mutation. (B) The IGV sequence data of the patient showed homozygous c.768+2T>C mutation.

Figure 3

(A) Exon 9 was not found in cDNA (cDNA sequence of the patient, reverse strand). (B) The parents had two strands for the heterozygous mutation. Exons 9 and 10 were overlapping in cDNA (cDNA sequence of the parents, forward strand).
DOI: https://doi.org/10.2478/bjmg-2019-0019 | Journal eISSN: 2199-5761
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Language: English
Page range: 89 - 92
Published on: Dec 21, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
cDNA sequencing,
Exon skipping,
Leuko-encephalopathy,
gene,
Splice-site mutation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2019 A Türkyılmaz, O Ünver, G Ekinci, D Türkdoğan, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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