Polymorphic corneal amyloidosis*1A disorder due to a novel mutation in the Transforming Growth Factor ??Induced (BIGH3) gene

Eifrig, David E.; Afshari, Natalie A.; Buchanan, Harry W.; Bowling, Brandy L.

doi:10.1016/j.ophtha.2003.09.043

Cited by 34 publications

(22 citation statements)

References 12 publications

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“…Based on the knowledge of the molecular genetics of the corneal dystrophies their diagnosis should now be determined by the molecular genetic results [1][2][3][4][5][6][7][8][12][13][14][15][16][17][18][19][20][21][22][23][24].…”

Section: Discussionmentioning

confidence: 99%

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Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings

Gruenauer-Kloevekorn

Braeutigam

Froster

et al. 2008

Graefes Arch Clin Exp Ophthalmol

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Section: Discussionmentioning

confidence: 99%

“…In some patients with CDBII, linkage analysis revealed the underlying molecular genetic defect at chromosome 10q24, which involves an as yet-unknown gene. In addition to these mutations, mutational heterogeneity exists and screening of the TGFBI gene has identified a number of unique coding region mutations [19][20][21][22][23][24].…”

Section: Introductionmentioning

confidence: 99%

Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings

Gruenauer-Kloevekorn

Braeutigam

Froster

et al. 2008

Graefes Arch Clin Exp Ophthalmol

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“…Eifrig et al [2004a] documented a form of autosomal dominant corneal amyloidosis that manifested primarily as polymorphic stromal opacities. This disorder was designated primary polymorphic amyloidosis and affected individuals carried a c.1637C4A (Ala546Asp) mutation in TGFBI.…”

Section: Autosomal Dominant Stromal Amyloidosesmentioning

confidence: 99%

TGFBI gene mutations in corneal dystrophies

2006

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The lattice corneal dystrophies (LCD) and granular corneal dystrophies (GCD) are autosomal dominant disorders of the corneal stroma. They are bilateral, progressive conditions characterized by the formation of opacities arising due to the deposition of insoluble material in the corneal stroma leading to visual impairment. The LCDs and GCDs are distinguished from each other and are divided into subtypes on the basis of the clinical appearance of the opacities, clinical features of the disease, and on histopathological staining properties of the deposits. The GCDs and most types of LCD arise from mutations in the transforming growth factor beta-induced (TGFBI) gene on chromosome 5q31. Over 30 mutations causing LCD and GCD have been identified so far in the TGFBI. There are two mutation hotspots corresponding to arginine residues at positions 124 and 555 of the transforming growth factor beta induced protein (TGFBIp) and they are the most frequent sites of mutation in various populations. Mutations at either of these two hotspots result in specific types of LCD or GCD. The majority of identified mutations involve residues in the fourth fasciclin-like domain of TGFBIp.

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“…Increasing numbers of rare gene mutations, such as L518P (Endo et al 1999;Hirano et al 2000), L527R (Fujiki et al 1998Hirano et al 2001), A546D (Aldave et al 2004a;Eifrig et al 2004;Klintworth et al 2004), P551Q (Aldave et al 2004b;Klintworth et al 2004), L569R (Warren et al 2003), or H626R (Afshari et al 2001;Chau et al 2003;Dighiero et al 2001;Ellies et al 2002), have recently been reported and identified as being associated with mutations in the TGFBI gene. These findings indicate that a broader spectrum of disease phenotypes for CDs probably exists than previously believed.…”

Section: Discussionmentioning

confidence: 99%

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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Polymorphic corneal amyloidosis*1A disorder due to a novel mutation in the Transforming Growth Factor ??Induced (BIGH3) gene

Cited by 34 publications

References 12 publications

Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings

Surgical outcome after phototherapeutic keratectomy in patients with TGFBI-linked corneal dystrophies in relation to molecular genetic findings

TGFBI gene mutations in corneal dystrophies

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

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