Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy.
- Author:
Juan YANG
1
;
Jiqing CAO
;
Yaqin LI
;
Hui ZHENG
;
Jing LI
;
Yingyin LIANG
;
Zhenhua LIU
;
Liqin WANG
;
Cheng ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Base Sequence; Cerebroside-Sulfatase; deficiency; genetics; DNA Mutational Analysis; Family Health; Female; Genetic Predisposition to Disease; genetics; Genotype; Humans; Infant; Leukodystrophy, Metachromatic; diagnostic imaging; enzymology; genetics; Magnetic Resonance Imaging; Male; Mutation; Pedigree; Phenotype; Polymerase Chain Reaction; Radiography; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2014;31(5):615-618
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).
METHODSClinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.
RESULTSThe 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.
CONCLUSIONLate 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.
