[HTML][HTML] Clear evidence of LAMA5 gene biallelic truncating variants causing infantile nephrotic syndrome

Y Taniguchi, K Sekiguchi, A Tashiro, N Sugawara… - Kidney360, 2021 - journals.lww.com
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 variants. Here, we report
three patients with LAMA5 gene biallelic truncating variants manifesting infantile nephrotic …