Candidate Gene Screening for Posterior Polymorphous Dystrophy

Aldave, Anthony J.; Yellore, Vivek S.; Principe, Alexandre H.; Abedi, Gelareh; Merrill, Kevin; Chalukya, Meenal; Small, Kent W.; Udar, Nitin

doi:10.1097/01.ico.0000141235.26096.1d

Cited by 32 publications

(21 citation statements)

References 11 publications

(13 reference statements)

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“…Mutations in a visual system homeobox gene 1 (VSX1; MIM# 605020) within the original linked interval were implicated as disease causing in some PPCD patients (Heon, et al, 2002;Valleix, et al, 2006). However, this finding was not confirmed by other reports which excluded VSX1 by linkage analysis and by direct sequencing (Gwilliam, et al, 2005;Aldave, et al, 2004). Linkage data indicates that there is another, as yet unidentified, PPCD1 gene on chromosome 20p11.2 (Gwilliam, et al, 2005).…”

Section: Introductioncontrasting

confidence: 42%

Novel mutations in theZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

et al. 2007

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We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the pathogenesis of this disorder were screened by DNA sequencing. Four novel pathogenic mutations were identified in four families; two deletions, one nonsense, and one duplication within exon 7 in the ZEB1 gene located at 10p11.2. We also genotyped the Czech patients to test for a founder haplotype and lack of disease segregation with the 20p11.2 locus we previously described. Although a systematic clinical examination was not performed, our investigation does not support an association between ZEB1 changes and self reported non-ocular anomalies. In the remaining six families no disease causing mutations were identified thereby indicating that as yet unidentified gene(s) are likely to be responsible for PPCD.

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Section: Introductioncontrasting

confidence: 42%

Novel mutations in theZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

et al. 2007

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“…The p.D144E variant was previously reported as disease causing in two affected family members with PPCD1 and keratoconus, 23 but has been detected in healthy controls 56 and glaucoma probands, 23 as well as in keratoconus patients. 29,35,47 In the cases with p.D144E reported by Bisceglia et al 35 from keratoconus families, one case was effectively a sporadic patient and in the second family in which segregation was reported, three out of the four affected patients had a diagnosis of forme fustre or subclinical keratoconus.…”

Section: Discussionmentioning

confidence: 96%

Mutational screening of VSX1 in keratoconus patients from the European population

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et al. 2009

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“…The VSX1 gene located within 20p11.21 of the candidate gene region for keratoconus and several pathogenic mutations in VSX1 gene were also found in various corneal dystrophies such as keratoconus and posterior polymorphous corneal dystrophy (PPCD, MIM122000) (Aldave 2005;Aldave et al 2005;Heon et al 2002). Heon et al (2002) identified mutations in the VSX1 homeobox gene in patients with either keratoconus or PPCD.…”

Section: Discussionmentioning

confidence: 99%

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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Candidate Gene Screening for Posterior Polymorphous Dystrophy

Cited by 32 publications

References 11 publications

Novel mutations in theZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

Novel mutations in theZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

Mutational screening of VSX1 in keratoconus patients from the European population

VSX1 gene variants are associated with keratoconus in unrelated Korean patients

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