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

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

doi:10.1002/ccr3.986

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

Clin Case Rep. 2017 May 4;5(6):961-967. doi: 10.1002/ccr3.986. eCollection 2017 Jun.

Authors

Cong-Ling Dai¹, Wen-Bin He^{1

2}, Juan Du^{1

2}, Yue-Qiu Tan^{1

2}, Guang-Xiu Lu^{1

2

3}, Wen Li^{1

2}

Affiliations

¹ Institute of Reproductive and Stem Cell Engineering Central South University Hunan 410008 China.
² Reproductive and Genetic Hospital of Citic-Xiangya Hunan 410008 China.
³ National Engineering and Research Center of Human Stem Cells Changsha Hunan 410000 China.

Abstract

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.

Keywords: Compound heterozygous mutation; MLC1; exon skipping.

Publication types

Case Reports