AB043. Correction of the GLA IVS4+919 G>A mutation with CRISPR/Cas9 deletion strategy in fibroblasts of Fabry disease Authors: Sheng-Kai Chang, Yung-Hsiu Lu, Yun-Ru Chen … Coculturing of Mucor plumbeus and Bacillus subtilis bacterium as an efficient fermentation strategy to enhance fungal lip...
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G4A (IVS4+919G4A). Hum Mutat 2009; 30: 1397–1405. 13 Inoue T, Hattori K, Ihara K, Ishii A, Nakamura K, Hirose S. Newborn screening for Fabry disease in Japan: ...
本研究先证者GLA基因第4号内含子chrX:100654735变异位点存在IVS4+919G>A变异(又称c.640-801G>A变异),该基因变异体外功能实验显示影响α-Gal A活性,被证实与心脏疾病相关[2],可出现左心室肥厚、瓣膜反流、心律失常、心力衰竭、心肌缺血等病变,这一热点变异也被称为“心脏型法布雷病”[15,16,17],先证者心脏...
IVS4À11T4Ac IVS4 13 c.658C4T p.R220X Exon 5 14 c.796G4A p.D266N Exon 5 15 c.679C4T p.R227X Exon 5 16 c.692A4G p.D231G Exon 5 17 c.803_806del p.L268fsX1 Exon 6 18 c.890C4T p.S297F Exon 6 19 c.902G4A 20 c.966C4Gc p.R301Q p.D322Ec Exon 6 Exon 6 ...
The patient has two daughters; one is 10 s and the other is 20 s. They have no Fabry symptoms, but they do have the Fabry obligate heterozygous Phe69 Leu mutation that we identified in their father. Their αGal-A activities in DBS were 3.65 pmol per punch h−1and 4.50...