Autosomal dominanter Keratokonus als okuläres Leitsymptom bei Osteogenesis imperfecta tarda Lobstein

Beckh, Ulrike; Schönherr, Ulrich; Naumann, G. O. H.

doi:10.1055/s-2008-1035438

Cited by 49 publications

(27 citation statements)

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“…However, it may be associated with other rare genetic disorders, which include Down syndrome, Leber congenital amaurosis, and connective tissue disorders like Marfan syndrome, 7 osteogenesis imperfecta, 8 and neurofibromatosis. 1 A long list of other conditions was reported to be associated with KC; for the most part, these associations should be considered to have occurred by chance.…”

Section: Discussionmentioning

confidence: 99%

The Association of Keratoconus With Immune Disorders

Nemet

Vinker

Bahar

et al. 2010

Cornea

139

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Section: Discussionmentioning

confidence: 99%

The Association of Keratoconus With Immune Disorders

Nemet

Vinker

Bahar

et al. 2010

Cornea

139

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“…However, the co-occurrence of KTCN with genetic disorders, including Ehlers-Danlos syndrome, mitral valve prolapse, osteogenesis imperfecta, Down syndrome, or Leber congenital amaurosis, has been described. [2][3][4][5][6] Although the most common presentation of KTCN is sporadic, 5.0-27.9% of patients report a positive family history. 7 Generally, family pedigrees suggest KTCN is an autosomal dominant trait.…”

Section: Introductionmentioning

confidence: 99%

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

et al. 2016

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Keratoconus (KTCN) is a protrusion and thinning of the cornea, resulting in impairment of visual function. The extreme genetic heterogeneity makes it difficult to discover factors unambiguously influencing the KTCN phenotype. In this study, we used whole-exome sequencing (WES) and Sanger sequencing to reduce the number of candidate genes at the 5q31.1-q35.3 locus and to prioritize other potentially relevant variants in an Ecuadorian family with KTCN. We applied WES in two affected KTCN individuals from the Ecuadorian family that showed a suggestive linkage between the KTCN phenotype and the 5q31.1-q35.3 locus. Putative variants identified by WES were further evaluated in this family using Sanger sequencing. Exome capture discovered a total of 173 rare (minor allele frequency o0.001 in control population) nonsynonymous variants in both affected individuals. Among them, 16 SNVs were selected for further evaluation. Segregation analysis revealed that variants c.475T4G in SKP1, c.671G4A in PROB1, and c.527G4A in IL17B in the 5q31.1-q35.3 linkage region, and c.850G4A in HKDC1 in the 10q22 locus completely segregated with the phenotype in the studied KTCN family. We demonstrate that a combination of various techniques significantly narrowed the studied genomic region and reduced the list of the putative exonic variants. Moreover, since this locus overlapped two other chromosomal regions previously recognized in distinct KTCN studies, our findings suggest that this 5q31.1-q35.3 locus might be linked with KTCN.

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“…Both, genetic and environmental factors are associated with KTCN. More than two dozen syndromes are associated with KTCN, including Down syndrome,3 Leber’s congenital amaurosis,4 connective tissue disorders including osteogenesis imperfecta,5 Gapo syndrome,6 and some subtypes of Ehlers-Danlos syndrome 7,8. However, in most patients KTCN is an isolated ocular disorder and not a feature of a specific syndrome.…”

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confidence: 99%

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

Gajęcka

Radhakrishna

Winters

et al. 2009

Invest. Ophthalmol. Vis. Sci.

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Purpose Keratoconus (KTCN) is a noninflammatory thinning and anterior protrusion of the cornea that results in steepening and distortion of the cornea, altered refractive powers, and reduced visual acuity. Several loci responsible for a familial form of KTCN have been mapped, however; no mutations in any genes have been identified for any of these loci. There is also evidence that VSX1 and SOD1 may be involved in the etiology of KTCN. The purpose of this study was to verify the available data and to identify a new keratoconus susceptibility locus. Methods KTCN without other ocular or systemic features was diagnosed in 18 families. VSX1 and SOD1 sequencing was performed on affected individuals and control subjects. Genomewide linkage analysis was then performed in all families using polymorphic microsatellite markers with an average spacing of 5 cM. Next, single-nucleotide polymorphism (SNP) arrays, fluorescence in situ hybridization (FISH) analysis, and a comparative genomic hybridization array were used in one family to assess a candidate region on 13q32. Results All previously reported KTCN loci were excluded. VSX1 and SOD1 were sequenced, and no potentially functional variants were found. One KTCN family yielded a maximum multipoint parametric LOD score of 4.1 and multipoint non-parametric linkage (NPL) LOD score of 3.2. Multipoint linkage and haplotype analysis narrowed the locus to a 5.6-Mb region between the SNPs rs9516572 and rs3825523 on 13q32. Conclusions The results exclude VSX1 and SOD1 as potential disease-causing genes in these families and localize a novel gene for keratoconus to a 5.6-Mb interval on 13q32.

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Autosomal dominanter Keratokonus als okuläres Leitsymptom bei Osteogenesis imperfecta tarda Lobstein

Cited by 49 publications

References 1 publication

The Association of Keratoconus With Immune Disorders

The Association of Keratoconus With Immune Disorders

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1–q35.3 susceptibility locus identified by whole-exome sequencing

Localization of a Gene for Keratoconus to a 5.6-Mb Interval on 13q32

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