Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts.
- VernacularTitle:一例巨颅伴皮层下海绵样囊肿性脑白质病患儿的MLC1基因突变分析
- Author:
Xiaolu CHEN
1
;
Haibo QU
;
Tao YU
;
Rong LUO
Author Information
- Publication Type:Case Reports
- MeSH: Child, Preschool; Cysts; genetics; Female; Hereditary Central Nervous System Demyelinating Diseases; genetics; Humans; Membrane Proteins; genetics; Mutation
- From: Chinese Journal of Medical Genetics 2016;33(3):316-319
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect potential mutation of MLC1 gene in a child affected with megalencephalic leukoencephalopathy with subcortical cysts (MLC).
METHODSClinical symptoms of the patient were retrieved. Peripheral blood DNA samples from the patient, her parents and healthy controls were collected. Potential mutation of the MLC1 gene was detected by polymerase chain reaction and Sanger sequencing.
RESULTSThe patient presented with severe motor developmental delay and a giant skull. Magnetic resonance scan showed diffuse white matter swelling in bilateral hemispheres. DNA sequencing identified a novel homozygous c.177-c.180delC mutation of the MLC1 gene. The parents of the patient both carried a heterozygous mutation c.177-c.180delC but had a normal phenotype.
CONCLUSIONA novel MLC1 mutation c.177-c.180delC has been identified in a patient with MLC. The mutation is presumably disease-causing and has derived from parents who are both carriers.
