Eri Okada, Tomoko Horinouchi, Tomohiko Yamamura, Yuya Aoto, Ryota Suzuki, Yuta Ichikawa, Yu Tanaka, Chika Masuda, Hideaki Kitakado, Atsushi Kondo, Nana Sakakibara, Shinya Ishiko, China Nagano, Shingo Ishimori, Joichi Usui, Kunihiro Yamagata, Masafumi Matsuo, Kandai Nozu
BACKGROUND: Fabry disease is an X-linked lysosomal storage disorder caused by insufficient α-galactosidase A (GLA) activity resulting from variants in the GLA gene, which leads to glycosphingolipid accumulation and life-threatening, multi-organ complications. Approximately 50 variants have been reported that cause splicing abnormalities in GLA. Most were found within canonical splice sites, which are highly conserved GT and AG splice acceptor and donor dinucleotides, whereas one-third were located outside canonical splice sites, making it difficult to interpret their pathogenicity...
May 31, 2023: Clinical and Experimental Nephrology