TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

Vincent, Andrea L; Karolyi, Betina De; Patel, Dipika V.; Wheeldon, Catherine E.; McGhee, Charles N J

doi:10.1136/bjo.2009.159632

Cited by 6 publications

(3 citation statements)

References 21 publications

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“…A previous study on 42 Chinese patients with particular CD subtypes did not detect TGFBI mutations in three patients with clinically diagnosed GCD2; interestingly, whole gene sequencing revealed that GCD2 was caused by non- TGFBI mutations in these patients [ 15 ]. Since TGFBI CD appears to represent a disease spectrum, rather than discrete phenotypes, with increasingly atypical or variant phenotypes, genetic diagnosis sometimes challenges the apparent clinical diagnosis when few TGFBI mutations are found in the atypical group [ 16 ].…”

Section: Discussionmentioning

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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Section: Discussionmentioning

confidence: 99%

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

et al. 2015

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“…9 GSN analysis was performed at the National Amyloidosis Centre (University College London, London, UK) Further systemic evaluation included hematologic tests, urine analysis, cardiologic evaluation with echocardiogram and cardiac markers, abdominal ultrasound, and bone marrow and renal biopsies.…”

Section: Methodsmentioning

confidence: 99%

Heavy-Chain Amyloidosis in TGFBI-Negative and Gelsolin-Negative Atypical Lattice Corneal Dystrophy

Pradhan

Henderson²,

Patel³

et al. 2011

Cornea

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“…Although studies of BIGH3-related HCD are of great interest (3,4), the role of BIGH3 mutations in HCD remains to be fully understood due to the lack of animal models (5). Since there are many limiting factors in the study of HCD, relevant animal models would greatly contribute to the study of this pathogenesis.…”

Section: Introductionmentioning

confidence: 99%

Establishment of a transgenic mouse model of corneal dystrophy overexpressing human BIGH3

Liao

Cui

Wang

2013

International Journal of Molecular Medicine

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Abstract. This study aimed to establish a transgenic mouse model of corneal dystrophy (CD) overexpressing the human transforming growth factor, β-induced, 68 kDa (TGFBI, also known as BIGH3) gene. A purified and linearized recombinant plasmid carrying the expression cassette BIGH3-IRES-EGFP was microinjected into the pronuclei of C57BL/6J mouse fertilized eggs under the control of the phosphoglycerate kinase (PGK) promoter. The expression of human BIGH3 in the transgenic mice was confirmed by PCR using DNA extracted from tail tissue. Four founder transgenic mice were identified by PCR and the increased expression of BIGH3 was observed in the corneas of the transgenic mice by RT-PCR and western blot analysis. The abnormal corneas with central opacity were observed in the transgenic mice by corneal photography. We concluded that the exogenous gene, BIGH3, was integrated successfully into the mouse genome through microinjection. In addition, the phenotype observed in this BIGH3 transgenic mouse model was similar to CD. Therefore, this transgenic model may prove useful in the investigation of the pathogenesis of CD.

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TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

Cited by 6 publications

References 21 publications

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

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

Heavy-Chain Amyloidosis in TGFBI-Negative and Gelsolin-Negative Atypical Lattice Corneal Dystrophy

Establishment of a transgenic mouse model of corneal dystrophy overexpressing human BIGH3

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