Genetic and phenotypic investigation of a Chinese pedigree with lattice corneal dystrophy IIIB subtype.

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To investigate phenotypes and disease-causing mutation in the transforming growth factor b -induced gene (TGFBI ) in a Southern Chinese pedigree with lattice corneal dystrophy (LCD ) IIIB with complicated cataract .A Southern Chinese pedigree with lattice corneal dystrophy IIIB with complicated cataract was recruited . Comprehensive ophthalmic investigations were performed before and after cataract surgery of phacoemulsification and intraocular lens implantation in the proband 's both eyes . Peripheral blood was collected from the proband , and genomic DNA was extracted . All exons of the TGFBI gene were sequenced to screen possible mutations .A bilateral LCD IIIB subtype was observed in the proband . Optical coherence tomography further revealed superreflective changes in the subepithelial and stroma layers of the cornea , with reduced central corneal thickness . Notably , bilateral cataract was found in the proband . Direct sequencing detected a recurrent heterozygous missense c .1877 A > G mutation in exon 14 of the TGFBI gene , resulting in substitution of histidine with arginine (p .H 626 R ).The current study was the first report of the TGFBI p .H 626 R mutation in Southern Chinese , suggesting that it could be a mutation hotspot across populations . Moreover , the mutation was associated with LCD IIIB subtype with complicated cataract , which had not been reported before , pointing to clinical heterogeneity of the mutation .