Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran

被引：2

作者：

Shariati, Gholamreza ^{[1
]}

Hamid, Mohammad ^{[2
]}

Saberi, Alihossein ^{[3
]}

Andashti, Behnaz ^{[4
]}

Galehdari, Hamid ^{[4
]}

机构：

[1] Kianpars, Narges Genet & PND Lab, Ahvaz, Iran

[2] Inst Pasteur, Dept Biotechnol, Tehran, Iran

[3] Ahvaz Jundishapur Univ, Sch Med, Dept Genet, Ahvaz, Iran

[4] Shahid Chamran Univ, Dept Genet, Ahvaz, Iran

来源：

CLINICAL CASE REPORTS | 2015年 / 3卷 / 02期

关键词：

Iranian; leukodystrophy; MLC1; gene; novel mutation;

D O I：

10.1002/ccr3.168

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

引用

页码：114 / 117

页数：4

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