A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure
Background: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. Methods: In this...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Karger Publishers
2013-06-01
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| Series: | Kidney & Blood Pressure Research |
| Subjects: | |
| Online Access: | http://www.karger.com/Article/FullText/350147 |
| _version_ | 1818520028750807040 |
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| author | Chunli Wang Yang Wang Feng Zhu Jing Xiong |
| author_facet | Chunli Wang Yang Wang Feng Zhu Jing Xiong |
| author_sort | Chunli Wang |
| collection | DOAJ |
| description | Background: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. Methods: In this study, the α-gal A gene of a Chinese family diagnosed with FD was analyzed for mutations and the genetic features of FD in this family were presented. Results: The α-gal A activity of the proband in this family was 0.03 nmol/ml/h in the whole blood. By PCR amplification and sequencing of the α-gal A gene exons, a single C-to-T transition was identified in codon 112 of exon 2. This C-to-T transition, mapping to position 334 in the cDNA of the α-gal A gene, was a missense mutation predicting a substitution of arginine to cysteine (p.R112C), which disrupts the normal activity of α-gal A enzyme. No further mutations were found in other exons of the α-gal A gene. In contrast to previous reports, in this family, all of the five male patients developed end-stage renal failure due to this missense mutation. Conclusions: These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage. |
| first_indexed | 2024-12-11T01:31:56Z |
| format | Article |
| id | doaj.art-7e3b995f7c8e40fa96771689c86bb481 |
| institution | Directory Open Access Journal |
| issn | 1420-4096 1423-0143 |
| language | English |
| last_indexed | 2024-12-11T01:31:56Z |
| publishDate | 2013-06-01 |
| publisher | Karger Publishers |
| record_format | Article |
| series | Kidney & Blood Pressure Research |
| spelling | doaj.art-7e3b995f7c8e40fa96771689c86bb4812022-12-22T01:25:21ZengKarger PublishersKidney & Blood Pressure Research1420-40961423-01432013-06-01374-522122810.1159/000350147350147A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal FailureChunli WangYang WangFeng ZhuJing XiongBackground: Fabry disease (FD) is a rare disease due to an X-linked recessive inborn error of glycosphingolipid metabolism resulting from the mutations of the α-galactosidase A (α-gal A) gene. FD is rare in Chinese and the data on clinic and genetic features of FD is still limited. Methods: In this study, the α-gal A gene of a Chinese family diagnosed with FD was analyzed for mutations and the genetic features of FD in this family were presented. Results: The α-gal A activity of the proband in this family was 0.03 nmol/ml/h in the whole blood. By PCR amplification and sequencing of the α-gal A gene exons, a single C-to-T transition was identified in codon 112 of exon 2. This C-to-T transition, mapping to position 334 in the cDNA of the α-gal A gene, was a missense mutation predicting a substitution of arginine to cysteine (p.R112C), which disrupts the normal activity of α-gal A enzyme. No further mutations were found in other exons of the α-gal A gene. In contrast to previous reports, in this family, all of the five male patients developed end-stage renal failure due to this missense mutation. Conclusions: These findings suggest that the missense mutation, p.R112C, in α-gal A gene ablates its activity and results in the development of FD with the renal damage.http://www.karger.com/Article/FullText/350147Fabry diseaseMissense mutationRenal failure |
| spellingShingle | Chunli Wang Yang Wang Feng Zhu Jing Xiong A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure Kidney & Blood Pressure Research Fabry disease Missense mutation Renal failure |
| title | A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure |
| title_full | A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure |
| title_fullStr | A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure |
| title_full_unstemmed | A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure |
| title_short | A Missense Mutation of the α-Galactosidase A Gene in a Chinese Family of Fabry Disease with Renal Failure |
| title_sort | missense mutation of the α galactosidase a gene in a chinese family of fabry disease with renal failure |
| topic | Fabry disease Missense mutation Renal failure |
| url | http://www.karger.com/Article/FullText/350147 |
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