Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts.
- Author:
Mang-mang GUO
1
;
Yu-wu JIANG
;
Han XIE
;
Ye WU
;
Jing SHANG
;
Qiang GU
;
Xi-ru WU
;
Jing-min WANG
Author Information
- Publication Type:Journal Article
- MeSH: Asian Continental Ancestry Group; genetics; Base Sequence; Child; Cysts; genetics; pathology; DNA Mutational Analysis; Exons; Female; Genotype; Hereditary Central Nervous System Demyelinating Diseases; genetics; pathology; Heterozygote; Humans; Membrane Proteins; genetics; Mutation; Pedigree; Phenotype; Proteins; genetics
- From: Chinese Journal of Pediatrics 2012;50(12):895-898
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC).
METHODGenomic DNA samples were extracted from peripheral blood of the proband and her parents. All exons and exon-intron boundaries of HEPACAM and MLC1 were amplified in the MLC family by polymerase chain reaction (PCR) followed by direct DNA sequencing.
RESULTTwo heterozygous mutations of HEPACAM located in exon 2, c.203A > T(p.K68M) and c.395C > A(p.T132N), were identified in the proband. The proband's mother had the heterozygous mutations c.203A > T(p.K68M), and her father had the heterozygous mutation-c.395C > A(p.T132N). There was no variation found in MLC1 gene.
CONCLUSIONThe proband was heterozygous compound MLC patient carrying on one allele with the c.203A > T(p.K68M) mutation inherited from her mother, and the other allele with the c.395C > A(p.T132N) mutation inherited from her father. The parents both are heterozygous carriers with normal phenotype. The disease-causing gene for this family was resulted in HEPACAM mutation other than MLC1 mutation.
