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.
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Authors | Mao-lu Tian, Yuan-long Yan, Jia-chuan Xiong, Xiao-xia Liu, Yuan Yang, Zhang-xue Hu |
Journal | Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
(Zhonghua Yi Xue Yi Chuan Xue Za Zhi)
Vol. 30
Issue 2
Pg. 185-8
(Apr 2013)
ISSN: 1003-9406 [Print] China |
PMID | 23568732
(Publication Type: English Abstract, Journal Article)
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Chemical References |
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Topics |
- Adult
- Fabry Disease
(genetics)
- Humans
- Male
- Middle Aged
- Mutation
- Pedigree
- alpha-Galactosidase
(genetics)
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