Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophy a

@article{Riazuddin2010MissenseMI,
  title={Missense mutations in the sodium borate cotransporter SLC4A11 cause late‐onset Fuchs corneal dystrophy a},
  author={Sheikh Riazuddin and Eranga Nishanthie Vithana and Li-Fong Seet and Yangjian Liu and Amr Al-Saif and Li Wei Koh and Yee Meng Heng and Tin Aung and Danielle N. Meadows and Allen O. Eghrari and John D. Gottsch and Nicholas Katsanis},
  journal={Human Mutation},
  year={2010},
  volume={31}
}
Homozygous mutations in the Borate Cotransporter SLC4A11 cause two early‐onset corneal dystrophies: congenital hereditary endothelial dystrophy (CHED) and Harboyan syndrome. More recently, four sporadic patients with late‐onset Fuchs corneal dystrophy (FCD), a common age‐related disorder, were also reported to harbor heterozygous mutations at this locus. We therefore tested the hypothesis that SLC4A11 contributes to FCD and asked whether mutations in SLC4A11 are responsible for familial cases… Expand
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy
TLDR
SLC4A11 mutations contribute to 11% (5/45) of sporadic late-onset FECD in the cohort studied, suggesting genetic heterogeneity in this FECD family. Expand
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.
TLDR
The data identify a locus for FCD, extend the complex genetic architecture of the disorder, provide direct evidence for the involvement of TCF4 in FCD pathogenesis, and begin to explain how causal FCD mutations affect discrete biochemical complexes. Expand
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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Parents of Patients With Congenital Hereditary Endothelial Dystrophy Should Be Evaluated for Fuchs Endothelial Corneal Dystrophy.
TLDR
The observation in the 10 families in which the child with CHED had both parents showing features of FECD supports the idea that CHED and FECD are causally related. Expand
Analysis of candidate genes ZEB1 and LOXHD1 in late-onset Fuchs’ endothelial corneal dystrophy in an Indian cohort
TLDR
While mutations in Z EB1 contributed to 2% of the late-onset FECD cases, the exact role of the two VUS identified in ZEB1 and LOXHD1 in FECD pathogenesis needs to be studied. Expand
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