No<i>VSX1</i>Gene Mutations Associated with Keratoconus

Aldave, Anthony J.; Yellore, Vivek S.; Salem, Andrew K.; Yoo, Gina L.; Rayner, Sylvia A.; Yang, Huiying; Tang, George; Piconell, Yoana; Rabinowitz, Yaron S.

doi:10.1167/iovs.05-1530

Cited by 75 publications

(55 citation statements)

References 26 publications

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“…This mutation is transmitted as an autosomal dominant trait with variable expressivity and incomplete penetrance. Although Aldave et al (2006) identified only one mutation, D144E, in a single affected keratoconus patient, D144E is a non-disease-causing polymorphism. Liskova et al (2007) reported the D144E mutation and two novel intronic SNPs in a white British family, but these variants did not cosegregate with the disease phenotype.…”

Section: Discussionmentioning

confidence: 97%

“…Tang et al (2008) could not confirm the association of the three polymorphisms L159 M, R166 W, and H244R in the VSX1 gene in a larger pedigree with keratoconus because the distribution of the three polymorphisms was not significant enough to support a pathogenetic role in keratoconus. Aldave et al (2006) and Tang et al (2008) reported that the previously identified pathogenic mutations did not observe the association with sporadic keratoconus patients. Therefore, it is important to identify the genetic factors that determine susceptibility to keratoconus to gain insight into the pathogenesis of keratoconus in Korean patients because the susceptibility of mutations in VSX1 can vary in different ethnicities.…”

Section: Discussionmentioning

confidence: 97%

“…Based on studies reporting significant linkage of keratoconus, several pathogenic mutations in VSX1 (MIM 605020; visual system homeobox gene 1, zebrafish, homolog of), located on 20p11.21, have been detected in multigenerational pedigrees of keratoconus, with a strong association and genetic variants of VSX1 that has been validated by multiple studies (Aldave et al 2006;Bawazeer et al 2000;Bisceglia et al 2005;Chwa et al 2006;Heon et al 2002;Kenney and Brown 2003;Kuming and Joffe 1977;Liskova et al 2007;Tang et al 2008). Although several variants of VSX1, e.g., L17P, L159 M, and R166 W, have been reported to be pathogenic in multigenerational pedigrees of keratoconus with various associations, the identified pathogenic mutations has shown various associations in familial keratoconus patients with different ethnicities (Aldave et al 2006;Bisceglia et al 2005;Heon et al 2002;Liskova et al 2007;Tang et al 2008). The association between variations in the VSX1 gene and keratoconus in Korean patients, however, has yet to be investigated.…”

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confidence: 97%

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VSX1 gene variants are associated with keratoconus in unrelated Korean patients

2008

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Keratoconus is a bilateral ectatic disorder characterized by the central thinning of corneal tissue leading to visual impairment. To investigate the possibility of visual system homeobox 1 (VSXI) as a candidate susceptibility gene for Korean patients with keratoconus, we performed a mutation screening of the VSXI gene in 249 unrelated patients with keratoconus and 208 control subjects without the ocular disorder. We found two heterozygous novel missense mutations in exon 2: N151S and G160V. The G160V mutation was identified in 13 keratoconus patients (5.3%), and the N151S mutation was found in only one keratoconus patient (0.4%). We also detected three synonymous polymorphisms and four intragenic polymorphisms. The IVS1-11*a allele was associated with a significantly increased risk of keratoconus in Korean patients [3.6 vs. 0.5%, p = 0.001, odds ratio (OR) = 7.76, 95% confidence interval (CI) 1.989-30.241). Other polymorphisms did not show an association with keratoconus risk. Our data is the first reported VSX1 mutation screening in Korean keratoconus patients. We detected two novel missense mutations and one intragenic polymorphism in the VSX1 gene, which show a strong statistical association with unrelated keratoconus patients. Consequently, our study suggests that VSX1 gene variants seem to be significant genetic variants for keratoconus predisposition in unrelated Korean patients.

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Section: Discussionmentioning

confidence: 97%

Section: Discussionmentioning

confidence: 97%

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confidence: 97%

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VSX1 gene variants are associated with keratoconus in unrelated Korean patients

2008

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“…61 To date, more than 1500 KC patients have been screened for VSX1 and potentially pathogenic mutations have been identified in less than 2% of cases suggesting that this gene does not have a major role in the molecular pathology of KC. 60,[62][63][64] Other candidate genes screened in KC cohorts include TIMP3, 65 TGFBI, 66,67 ZEB1, 68 FLG 69 and several collagen genes. 46,70,71 Despite these efforts, potentially pathogenic variants have only been identified in a very small number of individuals with KC.…”

Section: Geneticsmentioning

confidence: 99%

The pathogenesis of keratoconus

Davidson¹,

Hayes

Hardcastle³

et al. 2013

Eye

285

200

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Keratoconus (KC) is a common degenerative condition that frequently results in visual loss with an onset typically in early adulthood. It is the single most common reason for keratoplasty in the developed world. The cause and underlying pathological mechanism are unknown, but both environmental and genetic factors are thought to contribute to the development of the disease. Various strategies have been employed to address the gap in our understanding of this complex disease, with the expectation that over time more sophisticated therapies will be developed. In this review we summarise our current knowledge of the aetiology and risk factors associated with KC.

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“…Rabinowitz et al identified a gene locus on chromosome 21q, which encodes a collagen and defines the relationship between the DS and the keratoconus (23). However, gene loci on chromosomes 20, 16, and 15 related to keratoconus were also identified (24)(25)(26). Keratoconus seems multifactorial and includes genetic and environmental aspects.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of early corneal topographic changes in children with Down syndrome

Aslankurt¹,

Aslan²,

Aksoy³

et al. 2013

Turk J Med Sci

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Two new rotaliid genera and three new species are described from the Upper Ypresian of Sicily and Central Italy: Ornatorotalia spinosa n. gen. n. sp., Ornatorotalia granum n. sp. and Granorotalia sublobata n. gen. n. sp. Th e new taxa are all dated as SBZ 11 (middle Upper Ypresian, i.e., middle Cuisian) by the presence of Cuvillierina vallensis and alveolinid biostratigraphical markers such as Alveolina cremae, A. decastroi and A. distefanoi. Th e systematic position of these distinctive new taxa within the family Rotaliidae Ehrenberg, 1839 and their biostratigraphic potential are discussed.

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NoVSX1Gene Mutations Associated with Keratoconus

Cited by 75 publications

References 26 publications

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

The pathogenesis of keratoconus

Evaluation of early corneal topographic changes in children with Down syndrome

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