Article
Clear Evidence of LAMA5 Gene Biallelic Truncating Variants Causing Infantile Nephrotic Syndrome.
Kidney360 - 30 Dec 2021
Taniguchi Yukimasa, Nagano China, Sekiguchi Kiyotoshi, Tashiro Atsushi, Sugawara Noriko, Sakaguchi Haruhide, Umeda Chisato, Aoto Yuya, Ishiko Shinya, Rossanti Rini, Sakakibara Nana, Horinouchi Tomoko, Yamamura Tomohiko, Kondo Atsushi, Nagai Sadayuki, Nagase Hiroaki, Iijima Kazumoto, Miner Jeffrey H, Nozu Kandai
Abstract excerpt
Background: Pathogenic variants in single genes encoding podocyte-associated proteins have been implicated in about 30% of steroid-resistant nephrotic syndrome (SRNS) patients in children. However, LAMA5 gene biallelic variants have been identified in only seven patients so far, and most are missense variants of unknown significance. Furthermore, no functional analysis had been conducted for all but one of these...
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