RRML - Identification of three novel mutations in Romanian patients with Fabry disease

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Nr. 19(4)/2011

Identification of three novel mutations in Romanian patients with Fabry disease

Cristina-Sorina Cătană, Cristina Drugan, Costel Spânu, Jean‑Philippe Puech, Catherine Caillaud

Abstract:

Fabry disease is an X-linked recessively inherited disease caused by the deficiency of alpha-galactosidase A, a lysosomal enzyme involved in glycosphingolipid catabolism. This disorder can be clinically suspected in patients exhibiting predominantly angiokeratoma and neuropathic pain, but also cardiac, cerebrovascular and renal symptoms. However, the diagnosis is definitively confirmed in affected males by measurement of the enzymatic activity and characterisation of the pathogenic mutations. The alpha-galactosidase A (GLA) gene, located in Xq22, was cloned and numerous mutations were described. The aim of the present study was to identify the mutations present in six Romanian Fabry disease patients, using exon-sequencing of the GLA gene. Three novel sequence variations, one deletion c.548del and two missense substitutions c.539T>G (p.Leu180Trp) and c.241T>C (p.Trp81Arg) were found in these patients, as well as two previously reported mutations (c.937G>T or p.Asp313Tyr and c.485G>A or p.Trp162Stop).

Keywords: Fabry disease,mutation analysis,alpha galactosidase A gene,DNA sequencing

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Cătană CS, Drugan C, Spânu C, Puech J, Caillaud C. Identification of three novel mutations in Romanian patients with Fabry disease. Rev Romana Med Lab. 2011;19(4):367-72