Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 615-618, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-291717
ABSTRACT
<p><b>OBJECTIVE</b>To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).</p><p><b>METHODS</b>Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Diagnostic Imaging
/
DNA Mutational Analysis
/
Magnetic Resonance Imaging
/
Base Sequence
/
Radiography
/
Cerebroside-Sulfatase
/
Polymerase Chain Reaction
/
Family Health
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2014
Type:
Article
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