[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 30(2): 185-8, 2013 Apr.
Article
in Zh
| MEDLINE
| ID: mdl-23568732
ABSTRACT
OBJECTIVE:
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.METHODS:
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.RESULTS:
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.CONCLUSION:
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Pedigree
/
Fabry Disease
/
Alpha-Galactosidase
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adult
/
Humans
/
Male
/
Middle aged
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Year:
2013
Document type:
Article