title: [Analysis of HEPACAM mutations in a Chinese family with megalencephalic leukoencephalopathy with subcortical cysts].
abstract: OBJECTIVE
  To explore HEPACAM mutations in a Chinese family with megalencephalic leukoencephaloptathy with subcortical cysts (MLC).
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors: Mang-mang
authors: MM
authors: Guo
authors: Yu-wu
authors: YW
authors: Jiang
authors: Han
authors: H
authors: Xie
authors: Ye
authors: Y
authors: Wu
authors: Jing
authors: J
authors: Shang
authors: Qiang
authors: Q
authors: Gu
authors: Xi-ru
authors: XR
authors: Wu
authors: Jing-min
authors: JM
authors: Wang
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D018797:Cell Cycle Proteins; D002648:Child; D003560:Cysts / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D005838:Genotype; D020279:Hereditary Central Nervous System Demyelinating Diseases / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011506:Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C487620:HEPACAM protein, human; C425069:MLC1 protein, human; D008565:Membrane Proteins; D011506:Proteins