GLA Nonsense Mutation (c.485G>A) in a Three-Generation Family with Fabry’s Disease.
Br J Med Med Res
;
2016; 11(6):1-8
Article
in English
| IMSEAR
| ID: sea-182002
ABSTRACT
Background:
GLA nonsense mutations seem to be associated with more severe clinical phenotype.Aims:
Main aims were to identify the disease-causing mutation, to screen high risk family members and to predict the severity of clinical phenotype and age of onset based on genotype-phenotype analysis.Methods:
Seven family members were clinically assessed and enzyme activity levels were evaluated as well. Genomic DNA was isolated from blood samples and analyzed for GLA gene mutation.Results:
The proband, a 34-year-old man, was misdiagnosed for years. At 25 years of age he was diagnosed with Fabry’s disease. He had a less severe phenotype failing to express cardiac, cerebral or renal symptoms. In addition, the patient presented a ventricular septal defect as an incidental finding which has not been reported previously in Fabry’s disease. His maternal uncle had a severe classic form and, in addition, osteonecrosis of femoral head rarely reported as associated findings. All females were heterozygous; 3 of them were asymptomatic and 2 developed milder symptoms, skin and heart predominantly affected. Fabry’s disease was caused by the presence of GLA nonsense mutation c.485G>A. All close relatives of proband had one copy of the mutation.Conclusion:
The family nonsense mutation c.485G>A known to predict the classic phenotype showed a wide range of clinical manifestations from severe to asymptomatic forms both in males and females supporting the intrafamilial phenotypic variability for Fabry’s disease.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Type of study:
Prognostic study
Language:
English
Journal:
Br J Med Med Res
Year:
2016
Type:
Article
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