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
de Zh
| WPRIM
| ID: wpr-348511
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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>
Texte intégral:
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Indice:
WPRIM
Sujet Principal:
Anatomopathologie
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Pedigree
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Phénotype
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Analyse de mutations d'ADN
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Séquence nucléotidique
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Protéines
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Exons
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Maladies démyélinisantes héréditaires du système nerveux central
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Kystes
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Asiatiques
Limites du sujet:
Child
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Female
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Humans
langue:
Zh
Texte intégral:
Chinese Journal of Pediatrics
Année:
2012
Type:
Article