TGFBI-associated corneal dystrophy and nephropathy: a novel syndrome?

Abstract

Transforming growth factor beta-induced (TGFBI)-associated corneal dystrophies are a group of inherited progressive corneal diseases. One of these TGFBI-associated corneal dystrophies is Avellino corneal dystrophy, an autosomal dominant corneal dystrophy characterized by multiple asymmetric stromal opacities that potentially impair vision. Recently, a case with corneal dystrophy complicated by nephropathy possessing a pathogenic variant of the TGFBI gene was reported for the first time. Here, we report the second case with the same condition and the same mutation in the TGFBI gene. The patient was an 18-year-old male. He and his father had already been diagnosed with corneal dystrophy. Proteinuria was revealed in the patient during urine screening at school. Since his serum creatinine level was raised, a percutaneous renal biopsy was performed. Light microscopy demonstrated oligomeganephronia. Electron microscopy demonstrated an irregular basement membrane. TGFBI was analyzed by direct sequencing. A heterozygous mutation c.371G > A in exon 4, which caused an amino acid substitution from arginine to histidine at codon 124, was identified in the patient and his father. Although only one case of TGFBI-associated corneal dystrophy and nephropathy has been reported, our case's clinical and pathological findings were almost identical to those in that reported case. Further investigations of this new disease entity should be reported to all nephrologists and ophthalmologists.

Integrative Informatics Analysis of Transcriptome and Identification of Interacted Genes in the Glomeruli and Tubules in CKD

“…Overlapping with our gene pairs, we identified 18 and 10 secreted proteins in tubular and glomerular samples in CKD (Supplementary Table 12). Many proteins are well-known to be important in kidney diseases, such as TGFBI (37), TNFRSF1B (also known as TNFR2) (38,39), CXCL6 (40), and CCL5 (41). In the secreted proteins list, we found that WFDC2 from the tubule was negatively correlated with PEX19 from the glomeruli (Supplementary Table 12).…”

Corneal histomorphology and electron microscopic observation of R124L mutated corneal dystrophy in a relapsed pedigree

“…CD with R124L mutation belongs to epithelial-stromal CD [3] . The gene mutation sites of CD have been confirmed to be in the transforming growth factor B-induced (TGFBI or BIGH3) gene on chromosome 5q31 [4][5][6][7] . The diagnostic basis of CD mainly includes clinical observation of lesion location and morphology, histopathological changes, and genetic testing and typing results [8][9][10] .…”