Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts

ZHU Li-Na; MA Xiu-Wei; ZHENG Tian; HE Fang; FENG Zhi-Chun

doi:10.7499/j.issn.1008-8830.2015.04.015

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Chinese Journal of Contemporary Pediatrics ›› 2015, Vol. 17 ›› Issue (4) : 367-370. DOI: 10.7499/j.issn.1008-8830.2015.04.015

CLINICAL RESEARCH

Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts

ZHU Li-Na, MA Xiu-Wei, ZHENG Tian, HE Fang, FENG Zhi-Chun

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Abstract

The clinical data of a patient with megalencephalic leukoencephalopathy (MLC) with subcortical cysts and her parents were collected. MLC1 gene mutation was detected by polymerase chain reaction and direct DNA sequencing. The patient presented with motor developmental delay and giant skull, and brain magnetic resonance imaging showed diffuse white matter swelling accompanied by subcortical cysts in bilateral frontal and parietal lobes. Gene sequencing identified two heterozygous mutations of MLC1, including missense mutation in exon 3 (c.217G>A, p.Gly73Arg) and splice site mutation in intron 9 (c.772-1G>C in IVS9-1). The patient's parents both had heterozygous mutation c.772-1G>C in IVS9-1 with normal phenotype. It can be presumed that c.772-1G>C in IVS9-1 comes from the parents, and c.217G>A (p.Gly73Arg) is a de novo mutation.

Key words

Megalencephalic leukoencephalopathy with subcortical cysts / MLC1 gene / Mutation / Child

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ZHU Li-Na, MA Xiu-Wei, ZHENG Tian, HE Fang, FENG Zhi-Chun. Analysis of MLC1 gene mutation in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts[J]. Chinese Journal of Contemporary Pediatrics. 2015, 17(4): 367-370 https://doi.org/10.7499/j.issn.1008-8830.2015.04.015

References

[1] van der Knaap MS, Barth PG, StroinkH, et al. Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children[J]. Ann Neurol, 1995, 37(3): 324-334.
[2] Leegwater PA, Yuan BQ, van der Steen J, et al. Mutations of MLC1 ( KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts[J]. Am J Hum Genet, 2001, 68 (4): 831-838.
[3] 蔚洪恩, 姜玉武, 王静敏, 等. 巨脑性白质脑病伴皮层下囊肿一家系MLC1 基因突变分析[J]. 实用儿科临床杂志, 2006, 21(21): 1497-1499.
[4] Wang J, Shang J, Wu Y, et al. Identification of novel MLC1 mutationgs in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)[J]. J Hum Genet, 2011, 56(2): 138-142.
[5] van der Knaap MS, Lai V, Kohler W, et al. Megalencephalic leukoencephalopathy with cysts without MLC1 defect[J]. Ann Neurol, 2010, 67(6): 834-837.
[6] De Keyser J, Mostert JP, Koch MVV. Dysfunctional astrocytes as key players in the pathogenesis of central nervous system disorders[J]. J Neuro Sci, 2008, 267(1-2): 3-16.
[7] 王静敏, 姜玉武, 吴希如. 巨脑性白质脑病伴皮层下囊肿 MLC1 基因突变对星形胶质细胞功能的影响 [J]. 生理科学进展, 2010, 41(1): 69-71.
[8] 郭芒芒, 姜玉武, 谢涵, 等. 伴皮层下囊肿的巨脑性白质脑病一家系HEPACAM 基因突变分析[J]. 中华儿科杂志, 2012, 50(12): 895-898.
[9] Koyama S, Kawanami T, Arawaka S, et al. A Japanese adult case of megalencephalic leukoencephalopathy with subcortical cysts with a good long-term prognosis[J]. Intern Med, 2012, 51(5): 503-506.
[10] 吴维青, 谢建生, 韩春锡, 等. 一个巨脑性白质脑病伴皮层下囊肿家系遗传分析及产前诊断[J]. 中华医学遗传学杂志, 2011, 28(6): 616-619.