Unilateral lattice corneal dystrophy associated with the novelHis572del mutation in the TGFBI gene

[摘要] Purpose: To report a novel mutation in the TGFBI gene,c.1761_1763del (p.His572del), associated with a unilateral variant oflattice corneal dystrophy (LCD).Methods: A 63-year-old man presenting with the complaint ofdecreased vision in one eye was noted to have a unilateral latticecorneal dystrophy. Examination of the patient's wife and two sons, ages20 and 27 years old, failed to reveal the presence of any cornealopacities. Following the collection of DNA from the patient and hisfamily members, the TGFBI gene was screened for mutations previouslyassociated with lattice corneal dystrophy and any novel coding regionchanges.Results: In the affected patient, none of the mutations previouslyassociated with the classic and variant forms of LCD were identified.However, a novel mutation, c.1761_1763del (p.His572del), was identifiedin exon 13 of TGFBI in the patient and his sons. This mutation wasnot identified in the patient's wife or in 200 control chromosomes.Conclusions: The novel TGFBI gene mutation (p.His572del) isassociated with a unilateral, late-onset variant of lattice cornealdystrophy. This case highlights the utility of molecular geneticanalysis in differentiating corneal dystrophies associated with anatypical phenotype from nondystrophic conditions.

[学科分类] 生物化学/生物物理