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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.
Affiliation
  • Dai CL; Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China.
  • He WB; Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China.
  • Du J; Reproductive and Genetic Hospital of Citic-Xiangya Hunan 410008 China.
  • Tan YQ; Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China.
  • Lu GX; Reproductive and Genetic Hospital of Citic-Xiangya Hunan 410008 China.
  • Li W; Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China.
Clin Case Rep ; 5(6): 961-967, 2017 06.
Article in En | MEDLINE | ID: mdl-28588848
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Clin Case Rep Year: 2017 Document type: Article Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies Language: En Journal: Clin Case Rep Year: 2017 Document type: Article Country of publication: United kingdom