Genotype-phenotype correlations of TGFBI mutations
Author Information
Author(s): Niel-Butschi Florence, Kantelip Bernadette, Iwaszkiewicz Justyna, Zoete Vincent, Boimard Mathieu, Delpech Marc, Bourges Jean-Louis, Renard Gilles, D’Hermies François, Pisella Pierre-Jean, Hamel Christian, Delbosc Bernard, Valleix Sophie
Primary Institution: Inserm, U1016, Institut Cochin, CNRS, UMR 8104, Université Paris-Descartes, Paris, France
Hypothesis
Investigate the genotype-phenotype correlations for five TGFBI mutations and their potential effects on the protein’s structure.
Conclusion
The study describes a novel TGFBI mutation and shows that TGFBI mutations affecting Leu509 are linked to the lattice phenotype in two unrelated French families.
Supporting Evidence
- Two distinct missense mutations affecting the same residue at position 509 were found to be associated with lattice-type corneal dystrophy.
- The novel p.Val613Gly mutation was found in a sporadic case of an Algerian individual affected by lattice corneal dystrophy.
- The association of p.Met502Val and p.Arg555Gln variants led to the reclassification of a corneal dystrophy as atypical Thiel-Behnke CD.
Takeaway
This study looks at how certain gene changes can affect eye diseases, finding new mutations that can cause problems with vision.
Methodology
Three unrelated families with lattice corneal dystrophy were studied, and mutations in the TGFBI gene were detected by direct sequencing.
Limitations
The study could not assess familial segregation for the p.Val613Gly mutation due to unavailability of family members.
Participant Demographics
The study included three French families and one Algerian case.
Want to read the original?
Access the complete publication on the publisher's website