Genetic and clinical study of three Chinese pedigrees with Fabry disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 185-188, 2013.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-237285
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>Fabry disease is a rare lysosome storage disease featuring X-linked recessive inheritance. The study was to explore potential mutations of alpha-galactosidase A (GLA) gene and their correlation with clinic manifestations in three Chinese pedigrees with Fabry disease.</p><p><b>METHODS</b>All exons and flanking sequences of GLA gene were amplified with PCR. Potential mutations were detected with bidirectional DNA sequencing. Correlation between particular mutations and clinic features were analyzed.</p><p><b>RESULTS</b>A unreported missense mutation, c.797A>C (D266A) in GLA exon 5 was identified in pedigree 1. Also in exon 5, a missense mutation c.644A>G (N215S) was found in pedigree 2. In pedigree 3, a nonsense mutation c.355C>T (Q119X) was found in exon 2. The c.797A>C mutation was not detected in 200 unrelated male controls. The probands of pedigrees 1 and 3 had presented mainly with skin damage and chronic renal insufficiency, whilst the proband of pedigree 2 had presented with hypertrophic cardiomyopathy.</p><p><b>CONCLUSION</b>The unreported c.797A>C (D266A) mutation is the sixth missense type mutation of the 266th codon of GLA gene, and all other 5 missense mutations reported previously had been confirmed to be responsible for Fabry disease. The c.797A>C mutation, not found in 200 unrelated male controls, may be the causative mutation in pedigree 1. The c.644A>G and c.355C>T mutations were first detected in Chinese patients. Variable phenotypes of Fabry disease may be in part attributed to the natures of particular mutations of GLA gene.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Fabry Disease
/
Alpha-Galactosidase
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Document type:
Article