Four Mutations (Three Novel, One Founder) in<i>TACSTD2</i>among Iranian GDLD Patients

Alavi, Afagh; Elahi, Elahe; Tehrani, Mehdi Hosseini; Amoli, Fahimeh Asadi; Javadi, Mohammad Ali; Rafati, Nasrin; Chiani, Mohsen; Banihosseini, Setareh Sadat; Bayat, Behnaz; Kalhor, Reza; Amini, Seyed S.

doi:10.1167/iovs.07-0264

Cited by 15 publications

(18 citation statements)

References 28 publications

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“…Early studies identified Trop-2 gene mutations to be associated with Gelatinous Drop-like Corneal Dystrophy (GDLD), a rare autosomal recessive genetic disease which leads to severe vision disorders and even blindness (14–16). More recently, studies have observed that Trop-2 is highly expressed in a number of human epithelial tumors compared with the restricted expression found in normal tissues, and that it is also associated with poor overall patient survival (3–5).…”

Section: Discussionmentioning

confidence: 99%

Expression and clinical significance of the Trop-2 gene in advanced non-small cell lung carcinoma

et al. 2013

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The Trop-2 gene has been examined in various carcinomas and is reported to be significantly associated with prognosis. Little is known with regard to Trop-2 gene expression in advanced non-small cell lung carcinoma (NSCLC). The present study investigated the expression of Trop-2 and its association with the prognosis of advanced NSCLC. The clinical records of 87 patients with advanced NSCLC, consisting of 37 cases of squamous cell carcinoma (SCC) and 50 cases of adenocarcinoma (AdC), together with 17 tumor-adjacent normal tissues, were retrospectively evaluated. Trop-2 expression was measured using an immunohistochemical method and its association with clinicopathological data and prognosis was also evaluated. The expression of Trop-2 was significantly higher in the cancer tissues compared with the tumor-adjacent normal tissues, and significantly higher in SCC compared with AdC (P=0.018). In SCC, the overexpression of Trop-2 was only correlated with the histological grade of the tumor (P= 0.035) and no correlation was observed with gender, age, lymph node metastasis, TNM stage or Eastern Cooperative Oncology Group (ECOG) performance status (PS). In AdC, the over-expression of Trop-2 was correlated with the histological grade, lymph node metastasis and TNM stage (P= 0.01, 0.024 and 0.015, respectively), while no correlation with gender, age or ECOG-PS was observed. The survival frequency was significantly higher in the Trop-2-negative patients compared with the Trop-2-positive patients [17.25 months (95% CI, 14.922–19.577) vs. 13.274 months (95% CI, 11.507–15.041); P= 0.008]. The survival time was significantly longer in the Trop-2-negative AdC patients [17.275 months (95% CI, 14.575–19.975) vs. 11.469 months (95% CI, 11.507–15.041); P= 0.002], but not in the SCC patients [17.167 months (95% CI, 12.428–21.906) vs. 14.647 months (95% CI, 12.062–17.232); P= 0.276]. The multivariate analysis revealed that Trop-2 expression [hazard ratio (HR) 2.381; P= 0.038], TNM stage (HR, 2.193; P= 0.03) and ECOG-PS (HR, 2.696; P= 0.007) were independent predictors for the survival outcome of patients with AdC. These results suggest that Trop-2 overexpression is closely correlated with an unfavorable prognosis in advanced NSCLC. Trop-2 is an independent prognostic marker and a potential new therapeutic target in advanced AdC.

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Section: Discussionmentioning

confidence: 99%

Expression and clinical significance of the Trop-2 gene in advanced non-small cell lung carcinoma

et al. 2013

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“…The ancestry of the mutation in the Iranian pedigrees with respect to each other, and with respect to the same mutation in other populations could not be assessed because only limited regions of the genes were sequenced 33 . A founder mutation in TACSTD2 causing gelatinous drop‐like corneal dystrophy has been found in the Iranian population 34 . Observation of the c.371G>A mutation in the Iranian pedigrees further supports the proposal that perhaps only the mutation resulting in substitution of histidine for arginine at position 124 of TGFBIP results in the ACD phenotype 14 .…”

Section: Discussionmentioning

confidence: 99%

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees

Alavi¹,

Elahi²,

Rahmati-Kamel³

et al. 2008

Clinical Exper Ophthalmology

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The finding of R124H in the Middle Eastern (Iranian) population supports the proposal that perhaps only substitution of histidine for arginine at position 124 of tumour growth factor beta induced protein results in the Avellino corneal dystrophy phenotype. As both probands were originally diagnosed with granular corneal dystrophy, and as heterozygous carriers of R124H were unaware of their disease status prior to genetic analysis, the importance of genetic analysis is emphasized.

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“…632delA p.Gln211ArgfsX60 632delA 22 c.653delA p.Asp218ValfsX53 c.653delA 25 c.679G>A p.Glu227Lys E227K 14 c.772_783delATCTATTACCTGinsT p.Lle258X 772 to 783del(ATCTATTACCTG) + 772insT 26 c.811delA p.Lys271SerfsX26 1117delA 13 …”

Section: The Ic3d Classification (C = Category)unclassified

The IC3D Classification of the Corneal Dystrophies

Weiss

Møller

Lisch

et al. 2008

Cornea

247

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Background The recent availability of genetic analyses has demonstrated the shortcomings of the current phenotypic method of corneal dystrophy classification. Abnormalities in different genes can cause a single phenotype, whereas different defects in a single gene can cause different phenotypes. Some disorders termed corneal dystrophies do not appear to have a genetic basis. Purpose The purpose of this study was to develop a new classification system for corneal dystrophies, integrating up-to-date information on phenotypic description, pathologic examination, and genetic analysis. Methods The International Committee for Classification of Corneal Dystrophies (IC3D) was created to devise a current and accurate nomenclature. Results This anatomic classification continues to organize dystrophies according to the level chiefly affected. Each dystrophy has a template summarizing genetic, clinical, and pathologic information. A category number from 1 through 4 is assigned, reflecting the level of evidence supporting the existence of a given dystrophy. The most defined dystrophies belong to category 1 (a well-defined corneal dystrophy in which a gene has been mapped and identified and specific mutations are known) and the least defined belong to category 4 (a suspected dystrophy where the clinical and genetic evidence is not yet convincing). The nomenclature may be updated over time as new information regarding the dystrophies becomes available. Conclusions The IC3D Classification of Corneal Dystrophies is a new classification system that incorporates many aspects of the traditional definitions of corneal dystrophies with new genetic, clinical, and pathologic information. Standardized templates provide key information that includes a level of evidence for there being a corneal dystrophy. The system is user-friendly and upgradeable and can be retrieved on the website www.corneasociety.org/ic3d.

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Four Mutations (Three Novel, One Founder) inTACSTD2among Iranian GDLD Patients

Cited by 15 publications

References 28 publications

Expression and clinical significance of the Trop-2 gene in advanced non-small cell lung carcinoma

Expression and clinical significance of the Trop-2 gene in advanced non-small cell lung carcinoma

Mutation screening of TGFBI in two Iranian Avellino corneal dystrophy pedigrees

The IC3D Classification of the Corneal Dystrophies

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