title: [Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].
abstract: OBJECTIVE
  To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).
  
  
  METHODS
  Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.
  
  
  RESULTS
  The male proband onset with walking dysfunction at 19 months, arylsulfatase A activity of leucocyte from his peripheral blood was 20.2 nmol/mg.17h, and his cranial MRI showed wildly symmetrical demyelination. Homozygosis for novel c.622delC (p.His208Metfs46X) in exon 3 of ARSA gene was identified in proband, and heterozygous for the same mutation in parents and grandma of the proband.
  
  
  CONCLUSIONS
  Late infantile metachromatic leukodystrophy is characterized by rapid and progressive regression of neuropsychiatric and motor development. There is a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the ARSA gene and the phenotype presenting as O/O patients.
authors.affiliation: Department of Neurology, Zhujiang Hospital, Southern Medical University, Guangzhou, Guangdong, 510282 P.R.China. chengzhang100@hotmail.com.
authors.forename: Juan
authors.initials: J
authors.lastname: Yang
authors.forename: Jiqing
authors.initials: J
authors.lastname: Cao
authors.forename: Yaqin
authors.initials: Y
authors.lastname: Li
authors.forename: Hui
authors.initials: H
authors.lastname: Zheng
authors.forename: Jing
authors.initials: J
authors.lastname: Li
authors.forename: Yingyin
authors.initials: Y
authors.lastname: Liang
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Liu
authors.forename: Liqin
authors.initials: L
authors.lastname: Wang
authors.forename: Cheng
authors.initials: C
authors.lastname: Zhang
mesh_terms: D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000172:deficiency / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000000981:diagnostic imaging / Q000201:enzymology / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011859:Radiography; D017384:Sequence Deletion
chemical_list: D002553:Cerebroside-Sulfatase