ArticleNature communications2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly.
Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- Unveiling ocular developmental disorders through short-read whole-genome sequencing.European journal of human genetics : EJHG · 2026Article
- Integrative analysis of DNA methylation and inflammatory protein biomarkers in hypertension.Frontiers in immunology · 2026Article
- HomozygousRenal failure · 2025Article
- Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.International journal of molecular sciences · 2025Article
- Genetic heterogeneity in familial forms of genetic generalized epilepsy: from mono- to oligogenism.Human genomics · 2024Article
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.bioRxiv : the preprint server for biology · 2024Article
- [Research progress on monogenic inherited glomerular diseases with central nervous system symptoms].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Loss of Cdc42 causes abnormal optic cup morphogenesis and microphthalmia in mouse.Frontiers in cellular neuroscience · 2024Article
- Zebrafish model of RERE syndrome recapitulates key ophthalmic defects that are rescued by small molecule inhibitor of shh signaling.Developmental dynamics : an official publication of the American Association of Anatomists · 2023Article
- A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report.Ophthalmic genetics · 2023Article
- FAT1 expression in T-cell acute lymphoblastic leukemia (T-ALL) modulates proliferation and WNT signaling.Scientific reports · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- Identification of causative gene mutation in an Iranian family with coloboma and nephropathy using whole exome sequencing.CEN case reports · 2022Article
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- Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.Genes · 2021Article
- Planar cell polarity pathway in kidney development, function and disease.Nature reviews. Nephrology · 2021Review
- Expanding the Spectrum of FAT1 Nephropathies by Novel Mutations That Affect Hippo Signaling.Kidney international reports · 2021Article
- Role of FAT1 in health and disease.Oncology letters · 2021Review
- Observational
Corrections and comments
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Authors and funding
32 authors at 12 institutions in 7 countries.
Funding
Abstract
A failure in optic fissure fusion during development can lead to blinding malformations of the eye. Here, we report a syndrome characterized by facial dysmorphism, colobomatous microphthalmia, ptosis and syndactyly with or without nephropathy, associated with homozygous frameshift mutations in FAT1. We show that Fat1 knockout mice and zebrafish embryos homozygous for truncating fat1a mutations exhibit completely penetrant coloboma, recapitulating the most consistent developmental defect observed in affected individuals. In human retinal pigment epithelium (RPE) cells, the primary site for the fusion of optic fissure margins, FAT1 is localized at earliest cell-cell junctions, consistent with a role in facilitating optic fissure fusion during vertebrate eye development. Our findings establish FAT1 as a gene with pleiotropic effects in human, in that frameshift mutations cause a severe multi-system disorder whereas recessive missense mutations had been previously associated with isolated glomerulotubular nephropathy.
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