X-linked recessive Galloway-Mowat syndrome 2 caused by a specific LAGE3 variant

Galloway-Mowat syndrome (GAMOS) is a rare genetically heterogeneous disorder presented with early-onset steroid-resistant nephrotic syndrome in combination with microcephaly and brain anomalies. It was originally described in two siblings by Galloway and Mowat in 1968.1 Recently, novel causative mutations for GAMOS have been identified in the genes encoding the four KEOPS (kinase, endopeptidase, and other proteins of small size) subunits: LAGE3, OSGEP, TP53RK, and TPRKB.2 Braun et  al. revealed that knocking down genes encoding KEOPS subunits in human podocytes results in impaired cell proliferation and translation, endoplasmic reticulum stress, activation of DNA damage response signaling, increased apoptosis, and defects in actin regulation, all of which play a major pathog enic role in the development of GAMOS.

Source: Pediatrics and Neonatology - October 26, 2022 Category: Perinatology & Neonatology Authors: Tsai-Ling Liu, Shuan-Pei Lin, Martin Zenker, Tung-Ying Chen, Jui-Hsing Chang, Chun-Chen Lin, Jeng-Daw Tsai Tags: Short Communication Source Type: research