Individual phenotypic variances in a family with Avellino corneal dystrophy

Abazi, Zihret; Magarasevic, Lidija; Grubisa, Ivana; Risovic, Dusica

doi:10.1186/1471-2415-13-30

Cited by 11 publications

(6 citation statements)

References 5 publications

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“…This disease has clinical and histologic features of granular and lattice dystrophy. To date, the molecular genetic techniques used for the majority of cases of GCD2 have revealed the R124H mutation in TGFBI, however, the phenotype of the affected individuals vary markedly in severity between families (22). Direct sequencing in the present study revealed that the c.371 G>A mutation of TGFBI resulting in Arg124His was responsible for GCD2 in the pedigree, which was consistent with the results of a previous study (21).…”

Section: Sequence (5'-3') -------------------------------------------supporting

confidence: 91%

TGFBI gene mutations analysis in Chinese families with corneal dystrophies

Wang

Mao

et al. 2017

Molecular Medicine Reports

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The aim of the present study was to examine the clinical features of three Chinese families with autosomal dominant corneal dystrophy (CD) and examine transforming growth factor‑β‑induced (TGFBI) gene mutations in these families. The TGFBI gene mutations were detected using direct sequencing of the whole coding regions and exon-intron boundaries of the TGFBI gene in the affected members from the three families with CD. The phenotypes of all affected individuals in the three families were observed via slit lamp examination. Sections of the cornea were used for biopsy following keratoplasty. Three types of TGFBI gene mutations, R124C, H626R and R124H, were detected in the patients from these three families. One family, with the R124C mutation, was diagnosed with lattice corneal dystrophy type 1, and the family with the H626R mutation was diagnosed with lattice corneal dystrophy type IIIB. The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2. The TGFBI gene mutations were considered underlying factors in the molecular mechanism underlying the pathogenesis of cornea dystrophy. Therefore, the detection of TGFBI gene mutations may be useful in the differential diagnosis of CD.

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Section: Sequence (5'-3') -------------------------------------------supporting

confidence: 91%

TGFBI gene mutations analysis in Chinese families with corneal dystrophies

Wang

Mao

et al. 2017

Molecular Medicine Reports

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“…Several recurrent mutations have been shown to be associated with four specific phenotypes: p.R124H in GCD2, p.R555W in GCD1, and p.R124C in LCD1 [ 4 ]. Moreover, a number of cases with phenotypic variation for the same mutation, including atypical or variant phenotypes [ 5 , 6 , 7 , 8 ], have been reported, and novel mutations have also been described. Cumulatively, these data suggest phenotypic and allelic heterogeneity with respect to the TGFBI gene.…”

Section: Introductionmentioning

confidence: 99%

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies

et al. 2015

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BackgroundMutations in the transforming growth factor β-induced gene (TGFBI) are major causes of genetic corneal dystrophies (CDs), which can be grouped into TGFBI CDs. Although a few studies have reported the clinical and genetic features of Korean patients with TGFBI CD, no data are available regarding the frequency and spectrum of TGFBI mutations in a consecutive series of Korean patients with clinically diagnosed CDs.MethodsPatients with any type of CD, who underwent both ophthalmologic examination and TGFBI gene analysis by Sanger sequencing at a tertiary care hospital in Seoul, Korea from 2006 to 2013, were enrolled in this study.ResultsAmong a total of 89 patients, 77 (86.5%) were diagnosed as having clinical TGFBI CD. Seventy-three out of 74 patients (98.6%) with granular CD type 2 (GCD2), had the p.R124H mutation. Of particular note, one patient with rapidly progressive CD had the p.R124H mutation as well as a novel nonsense variant with unknown clinical significance (p.A179*). In three patients with lattice CD type 1 (LCD1), one known mutation (p.R124C) and two novel variants (p.L569Q and p.T621P) in the TGFBI gene were identified.ConclusionsThis study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2. In addition, we broaden the spectrum of TGFBI mutations by identifying two novel missense variants in patients with LCD1.

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“…Similar varied phenotypes have also been reported previously in GCD2 heterozygotes. 13,14 Variation in phenotypic expression is determined by regulation and control mechanisms of the TGFBI gene and by environmental factors, though their contribution is not well understood. Errors in the clinical diagnosis of TGFBIassociated GCD2 are not rare.…”

Section: Discussionmentioning

confidence: 99%

Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family

Zhang¹,

Liu²,

He³

et al. 2019

European Journal of Ophthalmology

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Purpose: The aim of this study was to analyze the relevant gene mutations in a Chinese family with special phenotypic variants of granular corneal dystrophy type 2 with cornea guttata. Methods: A total of 11 individuals from the affected family underwent complete ophthalmic examination. Genomic DNA was extracted from peripheral leukocytes of affected and unaffected family members. High-throughput sequencing was performed to screen for mutations in 290 genes associated with inherited ophthalmic diseases. Results were validated by bidirectional Sanger sequencing. Results: An Arg124His (R124H) mutation of the transforming growth factor beta-induced gene was identified in three members of the affected family: the proband (II-1), his mother (I-2), and his son (III-1). The eyes of the proband and his mother had bilateral superficial whitish ring patches with clear centers occupying their central corneas and appeared to be discoid or ring shaped. In addition, specular microscopic examination showed the presence of dark, round bodies. In vivo confocal microscopy showed some hyporeflective round images (cornea guttata), containing occasionally central highlight, in the proband, his mother, and one of his elder sisters. Conclusion: We report, for the first time, atypical granular corneal dystrophy type 2 with cornea guttata associated with a single R124H mutation in a Chinese family. Our findings emphasize that genotyping is essential for the accurate diagnosis and classification of granular corneal dystrophy type 2.

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Individual phenotypic variances in a family with Avellino corneal dystrophy

Cited by 11 publications

References 5 publications

TGFBI gene mutations analysis in Chinese families with corneal dystrophies

TGFBI gene mutations analysis in Chinese families with corneal dystrophies

Mutation Analysis of the TGFBI Gene in Consecutive Korean Patients With Corneal Dystrophies

Cornea guttata associated with special phenotypic variants of granular corneal dystrophy type 2 in a Chinese family

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