| Full text | |
| Author(s): |
Turaca, Lauro Thiago
[1]
;
Pessoa, Juliana Gilbert
[1]
;
Motta, Fabiana Louise
[1]
;
Munoz Rojas, Maria Veronica
[2]
;
Mueller, Karen Barbosa
[3]
;
Lourenco, Charles Marques
[4]
;
Marques, Wilson Junior
[4]
;
D'Almeida, Vania
[5]
;
Martins, Ana Maria
[3]
;
Pesquero, Joao Bosco
[1]
Total Authors: 10
|
| Affiliation: | [1] Univ Fed Sao Paulo, Dept Biophys, BR-04039032 Sao Paulo - Brazil
[2] Genzyme Brasil, Personalized Genet Hlth, Sao Paulo - Brazil
[3] Univ Fed Sao Paulo, Dept Pediat, BR-04039032 Sao Paulo - Brazil
[4] Univ Sao Paulo, Dept Neurosci, Fac Med Ribeirao Preto, Hosp Clin Ribeirao Preto, Sao Paulo - Brazil
[5] Univ Fed Sao Paulo, Dept Psychobiol, BR-04039032 Sao Paulo - Brazil
Total Affiliations: 5
|
| Document type: | Journal article |
| Source: | JOURNAL OF HUMAN GENETICS; v. 57, n. 6, p. 347-351, JUN 2012. |
| Web of Science Citations: | 10 |
| Abstract | |
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid catabolism that results from mutations in the alpha-galactosidase A (GLA) gene. Evaluating the enzymatic activity in male individuals usually performs the diagnosis of the disease, but in female carriers the diagnosis based only on enzyme assays is often inconclusive. In this work, we analyzed 568 individuals from 102 families with suspect of FD. Overall, 51 families presented 38 alterations in the GLA gene, among which 19 were not previously reported in literature. The alterations included 17 missense mutations, 7 nonsense mutations, 7 deletions, 6 insertions and 1 in the splice site. Six alterations (R112C, R118C, R220X, R227X, R342Q and R356W) occurred at CpG dinucleotides. Five mutations not previously described in the literature (A156D, K237X, A292V, I317S, c.1177\_1178insG) were correlated with low GLA enzyme activity and with prediction of molecular damages. From the 13 deletions and insertions, 7 occurred in exons 6 or 7 (54%) and 11 led to the formation of a stop codon. The present study highlights the detection of new genomic alterations in the GLA gene in the Brazilian population, facilitating the selection of patients for recombinant enzyme-replacement trials and offering the possibility to perform prenatal diagnosis. Journal of Human Genetics (2012) 57, 347-351; doi:10.1038/jhg.2012.32; published online 3 May 2012 (AU) | |
| FAPESP's process: | 08/06676-8 - Cellular and molecular biology of the kallikrein-kinin and renin-angiotensin systems |
| Grantee: | João Bosco Pesquero |
| Support Opportunities: | Research Projects - Thematic Grants |