Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts / 中华儿科杂志
Chinese Journal of Pediatrics
; (12): 895-898, 2012.
Article
in Zh
| WPRIM
| ID: wpr-348511
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC).</p><p><b>METHOD</b>Genomic 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.</p><p><b>RESULT</b>Two 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.</p><p><b>CONCLUSION</b>The 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.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pathology
/
Pedigree
/
Phenotype
/
DNA Mutational Analysis
/
Base Sequence
/
Proteins
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Exons
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Hereditary Central Nervous System Demyelinating Diseases
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Cysts
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Asian People
Limits:
Child
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Female
/
Humans
Language:
Zh
Journal:
Chinese Journal of Pediatrics
Year:
2012
Type:
Article