%0 Journal Article
%T Homozygous stop-gain variant in LRRC32, encoding a TGF¦Â receptor, associated with cleft palate, proliferative retinopathy, and developmental delay
%J -
%D 2019
%R https://doi.org/10.1038/s41431-019-0380-y
%X The transforming growth factor-beta (TGF¦Â) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant (GARP), encoded by LRRC32, is a TGF¦Â cell surface receptor that has been studied primarily in the context of cellular immunity. We identified a homozygous stop-gain variant in LRRC32 (c.1630C>T; p.(Arg544Ter)) in two families with developmental delay, cleft palate, and proliferative retinopathy. Garp-null mice have palate defects and die within 24£¿h after birth. Our study establishes LRRC32 as a candidate disease-associated gene in humans and lends further support to the role of the TGF¦Â pathway in palatogenesis and retinal development
%U https://www.nature.com/articles/s41431-019-0380-y