A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China

We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing anal...

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Autores principales: Dai, Cong‐Ling, He, Wen‐Bin, Du, Juan, Tan, Yue‐Qiu, Lu, Guang‐Xiu, Li, Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458048/
https://www.ncbi.nlm.nih.gov/pubmed/28588848
http://dx.doi.org/10.1002/ccr3.986
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author Dai, Cong‐Ling
He, Wen‐Bin
Du, Juan
Tan, Yue‐Qiu
Lu, Guang‐Xiu
Li, Wen
author_facet Dai, Cong‐Ling
He, Wen‐Bin
Du, Juan
Tan, Yue‐Qiu
Lu, Guang‐Xiu
Li, Wen
author_sort Dai, Cong‐Ling
collection PubMed
description We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5.
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spelling pubmed-54580482017-06-06 A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China Dai, Cong‐Ling He, Wen‐Bin Du, Juan Tan, Yue‐Qiu Lu, Guang‐Xiu Li, Wen Clin Case Rep Case Reports We report a compound heterozygous mutation (c.135delC; c.423+2dupT) of MLC1 gene in a Chinese patient underlying infantile macrocephaly and neurological deterioration in early childhood. Brain MRI revealed diffusion abnormality in swollen white matter and a subcortical cyst. The cDNA sequencing analysis for the c.423+2dupT variant revealed skipping of exon 5. John Wiley and Sons Inc. 2017-05-04 /pmc/articles/PMC5458048/ /pubmed/28588848 http://dx.doi.org/10.1002/ccr3.986 Text en © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Dai, Cong‐Ling
He, Wen‐Bin
Du, Juan
Tan, Yue‐Qiu
Lu, Guang‐Xiu
Li, Wen
A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
title A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
title_full A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
title_fullStr A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
title_full_unstemmed A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
title_short A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China
title_sort case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delc; c.423+2dupt) in china
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5458048/
https://www.ncbi.nlm.nih.gov/pubmed/28588848
http://dx.doi.org/10.1002/ccr3.986
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