期刊
EUROPEAN JOURNAL OF PEDIATRICS
卷 176, 期 8, 页码 1075-1081出版社
SPRINGER
DOI: 10.1007/s00431-017-2950-8
关键词
Fabry disease; Newborn screening; Lysosomal storage diseases; Genetic variants of unknown significance
类别
资金
- Spanish National Institute of Health-Instituto Carlos III/EU-FEDER [PI11-00842]
- FEEL Foundation
Fabry disease is an X-linked lysosomal storage disorder caused by the impairment of alpha-galactosidase A. Enzyme replacement therapy is available to treat patients, who often experience delayed diagnosis. A newborn screening for Fabry disease was performed to study the prevalence of the pathology and to evaluate the possibility to implement the test in systematic screenings. We collected 14,600 dried blood spot samples (7575 males and 7025 females) and carried out a diagnostic study by fluorometric measurement of alpha-galactosidase A enzymatic activity and GLA gene sequencing. We detected one patient with a mutation in GLA associated with classical Fabry Disease (M290I), ten subjects carrying genetic variants of uncertain diagnosis (S126G, R118C, A143T), and a girl with the non-characterized variant F18Y, which was not previously described. Additional 25 samples presented nucleotide substitutions described as polymorphisms (D313Y, rs2071225, and rs2071397). The estimated prevalence for Fabry disease in north-western Spanish males is of 0.013%. Conclusion: These results confirm that the prevalence of Fabry disease is underestimated and systematic screening is feasible; however, further characterization of variants of uncertain clinical significance is necessary to establish protocols of patients' management.
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