Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran

Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 ge...

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Autores principales: Shariati, Gholamreza, Hamid, Mohammad, Saberi, Alihossein, Andashti, Behnaz, Galehdari, Hamid
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352366/
https://www.ncbi.nlm.nih.gov/pubmed/25767710
http://dx.doi.org/10.1002/ccr3.168
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author Shariati, Gholamreza
Hamid, Mohammad
Saberi, Alihossein
Andashti, Behnaz
Galehdari, Hamid
author_facet Shariati, Gholamreza
Hamid, Mohammad
Saberi, Alihossein
Andashti, Behnaz
Galehdari, Hamid
author_sort Shariati, Gholamreza
collection PubMed
description Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).
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spelling pubmed-43523662015-03-12 Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran Shariati, Gholamreza Hamid, Mohammad Saberi, Alihossein Andashti, Behnaz Galehdari, Hamid Clin Case Rep Case Reports Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X). BlackWell Publishing Ltd 2015-02 2014-11-26 /pmc/articles/PMC4352366/ /pubmed/25767710 http://dx.doi.org/10.1002/ccr3.168 Text en © 2014 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
Shariati, Gholamreza
Hamid, Mohammad
Saberi, Alihossein
Andashti, Behnaz
Galehdari, Hamid
Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
title Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
title_full Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
title_fullStr Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
title_full_unstemmed Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
title_short Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran
title_sort molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of iran
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352366/
https://www.ncbi.nlm.nih.gov/pubmed/25767710
http://dx.doi.org/10.1002/ccr3.168
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