BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

El-Ashry, Mohamed F.; El-Aziz, Mai M. Abd; Ficker, Linda; Hardcastle, Alison J.; Bhattacharya, SS; Ebenezer, Neil D.

doi:10.1038/sj.eye.6701313

Cited by 7 publications

(5 citation statements)

References 18 publications

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“…61 In Bangladeshi and Chinese patients, grey-white geographic opacities without lattice lines, resembling a variant of RBCD, were observed in the anterior to mid-stroma. [58][59][60] However, no histological data were available for these cases.…”

Section: Phenotype-genotype Correlations In Tgfbimentioning

confidence: 99%

“…Phenotypic variations associated with p.Arg124Cys mutations have been documented in Greek, Japanese, Bangladeshi, and Chinese patients. [56][57][58][59][60] In the Japanese patients, the opacities were observed in the superficial cornea, and no amyloid deposition was identified in histopathological and electron microscopy analysis. 61 Recently, Patel et al described a GCD2 variant of p.Arg124Cys mutation in three Vietnamese patients with granular deposits in the subepithelial layer and amyloid deposits in the stroma.…”

Section: Phenotype-genotype Correlations In Tgfbimentioning

confidence: 99%

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Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

et al. 2014

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Section: Phenotype-genotype Correlations In Tgfbimentioning

confidence: 99%

Section: Phenotype-genotype Correlations In Tgfbimentioning

confidence: 99%

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

et al. 2014

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“…Although a clear genotype/phenotype correlation is generally thought to be associated with the TGFBI gene (Korvatska et al 1998;Munier et al 1997), the clinical manifestation of the same mutation in the TGFBI gene can vary, probably modified by the stage of the disease, environmental factors, other gene modifiers, and/or surgical interventions (Chau et al 2003;El-Ashry et al 2004;Konishi et al 1999;Meallet et al 2004;Morishige et al 2004;Yoshida et al 2004b). For example, the R124C mutation is also responsible for ''gelatino-lattice'' CD whose clinical phenotype resembles gelatinous drop-like CD (Nakamura et al 2000).…”

Section: Introductionmentioning

confidence: 97%

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction

Yamaji¹,

Yoshida²,

Noda³

et al. 2005

Hum Genet

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Recent studies of the corneal dystrophies (CDs) have shown that most cases of granular CD, Avellino CD, and lattice CD type I are caused by mutations in the human transforming growth factor beta-induced (TGFBI) gene. The aim of this study was to develop a rapid diagnostic assay to detect mutations in the TGFBI gene. Sixty-six patients from 64 families with TGFBI-associated CD were studied. A primer probe set was designed to examine the genome from exons 4 and 12 of the TGFBI gene in order to identify mutant and wild-type alleles. A region spanning the mutations was amplified by the polymerase chain reaction (PCR) in a commercial cycler. Mutations were then identified by melting curve analysis of the hybrid formed between the PCR product and a specific fluorescent probe. Using this system, we clearly distinguished each CD genotype (homozygous and heterozygous 418G-->A, heterozygous 417C-->T, heterozygous 1710C-->T, and wild-type) of all the patients by means of the clearly distinct melting peaks at different temperatures. One thermal cycling took approximately 54 min, and all results were completely in concordance with the genotypes determined by conventional DNA sequencing. Thus, the technique is accurate and can be used for routine clinical diagnosis. We expect that our new method will help in making precise diagnoses of patients with atypical CDs and aid the revision of the clinical classification of inherited corneal diseases based on the genetic pathogenesis.

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“…[1][2][3] Thus, molecular genetic analysis of the mutations in the bigh3 gene is most adequate to diagnose patients having different types of b-aCDs, in particular those with an atypical or ambiguous corneal appearance. [4][5][6] The molecular genetic analysis of the mutations in the bigh3 gene has mainly relied on direct sequencing. However, DNA microarray-based detection of point mutations can be a much more efficient alternative.…”

mentioning

confidence: 99%

Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the igh3 gene

Yoo

Kim

Lee

et al. 2007

British Journal of Ophthalmology

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Aim: To develop a diagnostic DNA chip to detect mutations in the bigh3 gene causing the most common corneal dystrophies (CDs). Methods: Samples from 98 people, including patients with bigh3-associated CDs (b-aCDs), were examined. Specific primer and probe sets were designed to examine exons 4 and 12 of the bigh3 gene, in order to identify mutant and wildtype alleles. Mutations were then identified by hybridisation signals of sequence-specific probes immobilised on the slide glass.Results: Direct sequencing of exons 4 and 12 of the bigh3 gene in the patients' genome showed that b-aCDs could be mainly classified into five types: homozygotic Avellino corneal dystrophy (ACD), heterozygotic ACD, heterozygotic lattice CD I, heterozygotic Reis-Bucklers CD and heterozygotic granular CD. Blind tests were performed by applying the target DNA amplified from the genomic DNA isolated from the peripheral blood of the participants onto a DNA chip. The results obtained by DNA chip hybridisation matched well with the direct DNA sequencing results. Conclusions: The DNA chip developed in this study allowed successful detection of b-aCDs with a sensitivity of 100%. Mutational analysis of exons 4 and 12 of the bigh3 gene, which are the mutational hot spots causing b-aCDs, can be successfully performed with the DNA chip. Thus, this DNA chip-based method should allow a convenient, yet highly accurate, diagnosis of b-aCDs, and can be further applied to diagnose other types of CDs.

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BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI

Cited by 7 publications

References 18 publications

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

Clinical and Genetic Aspects of the TGFBI-associated Corneal Dystrophies

Rapid genotyping for most common TGFBI mutations with real-time polymerase chain reaction

Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the igh3 gene

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