Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report

Figure 1 Family tree. The four-generation pedigree with the mutation p.G116fs in the GLA gene is shown. Roman numerals indicate generations; individuals within a generation are numbered from left to right. The proband (II-3) is denoted with an arrow. Oblique lines indicate patients who are already dead. Filled squares and circles indicate male and female patients, respectively. Black color represents patients with Fabry disease (FD), which were confirmed by genetic analysis. The proband’s father (I-2) suffered from cardiovascular disease and stroke. The proband (II-3) died of end-stage heart failure. The proband’s son (III-2) started enzyme replacement therapy in July 2020. The proband’s granddaughter (IV-1) was born before her father (III-2) was diagnosed with FD.