Phenotype Associated with the H626P Mutation and Other Changes in the <i>TGFBI</i> Gene in Czech Families

Abstract

Aims: To evaluate mutations in the transforming-growth-factor-β-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies. Methods: The coding sequence of the TGFBI gene was analysed in 22 affected Czech individuals from 7 apparently unrelated families. Comparison of phenotype to genotype was performed. Results: A H626P mutation, previously only described in a family with a variant of lattice corneal dystrophy (LCD), was detected in one family with superficial geographic corneal opacities. Light microscopy of 2 samples obtained following either a prior superficial keratectomy or keratoplasty showed amyloid but no fuchsinophilic deposits. In a family with LCD type I, an R124C mutation was identified. The R124L mutation was shown to be causative of Reis-Bücklers corneal dystrophy in 2 families. A family with Thiel-Behnke corneal dystrophy exhibited an R555Q mutation. In 2 families with granular corneal dystrophy type I, the typical R555W change was identified. Conclusion: The phenotype of the family with the H626P mutation differed from the phenotype previously reported for this change.

Paraproteinemic keratopathy associated with monoclonal gammopathy of undetermined significance (MGUS): clinical findings in twelve patients including recurrence after keratoplasty

“…In three individuals, initially diagnosed with epithelial‐stromal corneal dystrophy, we extracted DNA from venous blood and performed standard Sanger sequencing of TGFBI coding exons 4, 11‐14 (reference sequence NM_000358.2) (Liskova et al. ).…”

A Novel <i>TGFBI</i> Phenotype with Amyloid Deposits and Arg124Leu Mutation

“…Similarly, Gly623Asp mutation is associated with several different phenotypes that include GCD3, a variant of lattice corneal dystrophy and a combination of these two forms [7,12] . Other such variants include His626Pro mutation that has been described in atypical cases noted to have hyaline or amyloid deposits [13,14] .…”

Clinical and Histopathologic Characteristics and Template of the TGFBI p.(His626Arg) Missense Variant Lattice Corneal Dystrophy

“…31 The variant is reported in the Leiden Open Variation Database (LOVD v3.0; tgfbi.lovd.nl), with references to 3 studies included in this meta-analysis. 6,13,17 In addition, LOVD3 reports a variant c.1877A.C in the same codon, resulting in p.(His626Pro) (H626P in short form) substitution, the phenotype of which suggests a more superficial dystrophy that shares features with Reis-Bücklers and Thiel-Behnke corneal dystrophies, in 2 families, 13,32,33 although a lattice-like phenotype was mentioned in a third family. 13…”