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

نویسندگان

  • Cong-Ling Dai
  • Wen-Bin He
  • Juan Du
  • Yue-Qiu Tan
  • Guang-Xiu Lu
  • Wen Li
چکیده

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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عنوان ژورنال:

دوره 5  شماره 

صفحات  -

تاریخ انتشار 2017