Fig. 2

A Genomic sequencing of the patient, his mother and a normal control (NC). The patient was hemizygous and the mother heterozygous for the GLA mutation IVS4+1326C>T. B Schematic of the GLA gene indicating the relative position of the seven exons and showing the position of IVS4+1326C>T and the other 19 renal variant associated hemizygous GLA mutations. We only include renal variant associated GLA mutations reported in the database of PubMed with thorough investigation of all patient organs. Mutations identified only in renal variant of FD are shown in black letters. Mutations also identified in cardiac variant of FD are shown in green letters (p.Ala37Thr [17]; p.Glu66Gln [18]; p.Ile91Thr [19]; p.Arg112His [20]; p.Phe113Leu [21]; p.Ala143Thr [20]; p.Pro205Ser [22]). Mutations also identified in FD patients with classical phenotype are shown in red letters (p.Arg356Gly [23]; p.Lys426Argfs*24 [24])