AI Article Synopsis
- The TGFβ signaling pathway is crucial for the development of the palate and retina in humans.
- Researchers found a specific mutation in the LRRC32 gene, which encodes the GARP protein, in families with developmental issues, including cleft palate and vision problems.
- Garp-null mice, which lack this protein, show severe palate defects and do not survive long after birth, highlighting the importance of LRRC32 in human health.
Article Abstract
The transforming growth factor-beta (TGFβ) signaling pathway is essential for palatogenesis and retinal development. Glycoprotein A repetitions predominant (GARP), encoded by LRRC32, is a TGFβ 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 TGFβ pathway in palatogenesis and retinal development.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777458 | PMC |
| http://dx.doi.org/10.1038/s41431-019-0380-y | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!