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Ophthalmic Genetics Volume 44, 2023 - Issue 2
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Case Report

A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report

Emile R. Vieta-Ferrera Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Ehsan Ullahb Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Delphine Blaina Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Julie A. Christensenc Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Carmen C. Brewerc Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
James E. Balowd Kidney Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Aman Georgeb Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Robert B. Hufnagelb Ophthalmic Genetics Laboratory, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAView further author information
,
Tiziana Cogliatia Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USAView further author information
&
Brian P. Brooksa Pediatric, Developmental, and Genetic Ophthalmology Section, Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA;e Office of the Clinical Director, National Eye Institute, Bethesda, Maryland, USACorrespondence[email protected]
ORCID Iconhttps://orcid.org/0000-0002-1916-7551View further author information
ORCID Icon show all
Pages 182-185 | Received 19 Mar 2022, Accepted 31 May 2022, Published online: 22 Feb 2023

References

  • Chang L, Blain D, Bertuzzi S, Brooks BP. Uveal coloboma: clinical and basic science update. Curr Opin Ophthalmol. 2006;17(5):447–70. doi:10.1097/01.icu.0000243020.82380.f6.
  • Patel A, Sowden JC. Genes and pathways in optic fissure closure. Semin Cell Dev Biol. Published online 2019; 91: 55–65. doi:10.1016/j.semcdb.2017.10.010.
  • Lahrouchi N, George A, Ratbi I, Schneider R, Elalaoui SC, Moosa S, Bharti S, Sharma R, Abu-Asab M, Onojafe F. Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat Commun. 2019;10(1):1–11. doi:10.1038/s41467-019-08547-w.
  • Morris LGT, Kaufman AM, Gong Y, Ramaswami D, Walsh LA, Turcan Ş, Eng S, Kannan K, Zou Y, Peng L. Recurrent somatic mutation of FAT1 in multiple human cancers leads to aberrant wnt activation. Nat Genet. 2013;45(3):253–61. doi:10.1038/ng.2538.
  • Peng Z, Gong Y, Liang X. Role of FAT1 in health and disease (review). Oncol Lett. 2021;21(5):1–13. doi:10.3892/ol.2021.12659.
  • Tanoue T, Takeichi M. Mammalian fat1 cadherin regulates actin dynamics and cell-cell contact. J Cell Biol. 2004;165(4):517–28. doi:10.1083/jcb.200403006.
  • Kaplan DD, Meigs TE, Casey PJ. Distinct regions of the cadherin cytoplasmic domain are essential for functional interaction with Gα12 and β-Catenin. J Biol Chem. 2001;276(47):44037–43. doi:10.1074/jbc.M106121200.
  • Miller MB, Bi WL, Ramkissoon LA, Jee Kang Y, Abedalthagafi M, Knoff DS, Agarwalla PK, Wen PY, Reardon DA, Alexander BM. MAPK activation and HRAS mutation identified in pituitary spindle cell oncocytoma. Oncotarget. 2016;7(24):37054–63. doi:10.18632/oncotarget.9244.
  • Hu X, Zhai Y, Kong P, Cui H, Yan T, Yang J, Qian Y, Ma Y, Wang F, Li H. FAT1 prevents epithelial mesenchymal transition (EMT) via MAPK/ERK signaling pathway in esophageal squamous cell cancer. Cancer Lett. 2017;397:83–93.
  • Gee HY, Sadowski CE, Aggarwal PK, Porath JD, Yakulov TA, Schueler M, Lovric S, Ashraf S, Braun DA, Halbritter J. FAT1 mutations cause a glomerulotubular nephropathy. Nat Commun. 2016;7(1):10822. doi:10.1038/ncomms10822.
  • Sadeqzadeh E, de Bock CE, Thorne RF. Sleeping giants: emerging roles for the fat cadherins in health and disease. Med Res Rev. 2014 Jan;34(1):190–221. doi: 10.1002/med.21286. Epub 2013 May 29. PMID: 23720094.

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