Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

Happle, Rudolf

doi:10.1111/j.1399-0004.1981.tb00669.x

Cited by 62 publications

(6 citation statements)

References 10 publications

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“…The initial lens abnormality evident at P21 was characterized by the swelling of epithelial cells in the equatorial region ultimately leading to severe lens fiber cell degeneration. In children with RCDP, bilateral congenital cataracts present at birth or during early infancy 3, 37 . Gnpat -/- and Pex -/- 7 mice also exhibit cataracts 18, 19, 34 although the molecular etiology of cataract formation in these mice is unknown.…”

Section: 1 Discussionmentioning

confidence: 99%

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Liegel

Ronchetti

Sidjanin

2014

Molecular Genetics and Metabolism Reports

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Rhizomelic chondrodysplasia punctata (RCDP) is a genetically heterogeneous autosomal recessive syndrome characterized by congenital cataracts, shortening of the proximal limbs, neurological abnormalities, seizures, growth delays, and severe intellectual disability. Most RCDP children die in the first decade of life due to respiratory complications. Mutations in alkylglycerone phosphate synthase (AGPS) cause RCDP type 3 (RCDP3). We've previously established that cataracts and male infertility in blind sterile 2 (bs2) mice are caused by a spontaneous hypomorphic mutation in Agps. As a part of this study, we set out to further explore the bs2 phenotypes and how they correlate to the clinical presentations of RCDP3 patients. Our results show that ~ 50% bs2 mice die embryonically and surviving bs2 mice exhibit growth delays that they overcome by adulthood. The X-ray analysis of adult bs2 mice revealed significant humeral, but not femoral shortening. Clinical and histological eye evaluations revealed that bs2 lenses undergo normal development with first opacities developing at P21 that by P28 rapidly progress to mature cataracts. Evaluation of testes determined that infertility in bs2 mice is due to the aberrant formation of multicellular cellular clusters that undergo apoptosis. Given that the bs2 locus is a hypomorphic Agps mutation, we set out to generate Agps knockout mice utilizing the Knockout Mouse Project (KOMP) resource. Our results showed that ~ 85% of Agps knock-out mice die embryonically whereas surviving adult Agps knock-out mice phenotypically exhibit cataracts and testicular abnormalities similar to those observed in bs2 mice. Given that the majority of Agps knock-out mice die embryonically, this presented a challenge for further analyses of Agps deficiency in mouse models. Although not done as a part of this study, Agps-KOMP mice or ES cells can be further modified with FLP recombinase to generate mice suitable for subsequent matings with a transgenic Cre strain of choice, thereby providing an opportunity to study conditional Agps deficiency in a specific tissue or desired developmental time points without Agps deficiency-mediated embryonic lethality.

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Section: 1 Discussionmentioning

confidence: 99%

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Liegel

Ronchetti

Sidjanin

2014

Molecular Genetics and Metabolism Reports

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“…Cataracts are found in approximately 65% of affected females. They are often congenital and may be bilateral, unilateral, or sectorial [Happle, 1981; Hennekam et al, 2010]. Microphthalmia and microcornea have also been reported.…”

Section: X‐linked Dominant Chondrodysplasia Punctatamentioning

confidence: 99%

Fluorine doping into diamond‐like carbon coatings inhibits protein adsorption and platelet activation

Hasebe

Yohena

Kamijo

et al. 2007

J Biomedical Materials Res

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The first major event when a medical device comes in contact with blood is the adsorption of plasma proteins. Protein adsorption on the material surface leads to the activation of the blood coagulation cascade and the inflammatory process, which impair the lifetime of the material. Various efforts have been made to minimize protein adsorption and platelet adhesion. Recently, diamond-like carbon (DLC) has received much attention because of their antithrombogenicity. We recently reported that coating silicon substrates with fluorine-doped diamond-like carbon (F-DLC) drastically suppresses platelet adhesion and activation. Here, we evaluated the protein adsorption on the material surfaces and clarified the relationship between protein adsorption and platelet behaviors, using polycarbonate and DLC- or F-DLC-coated polycarbonate. The adsorption of albumin and fibrinogen were assessed using a colorimetric protein assay, and platelet adhesion and activation were examined using a differential interference contrast microscope. A higher ratio of albumin to fibrinogen adsorption was observed on F-DLC than on DLC and polycarbonate films, indicating that the F-DLC film should prevent thrombus formation. Platelet adhesion and activation on the F-DLC films were more strongly suppressed as the amount of fluorine doping was increased. These results show that the F-DLC coating may be useful for blood-contacting devices.

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“…They are often congenital and may be bilateral, unilateral, or sectorial ( 234,241 ). Microphthalmia and microcornea have also been reported.…”

Section: Sterol Biochemistry and Molecular Biologymentioning

confidence: 99%

Malformation syndromes caused by disorders of cholesterol synthesis

Porter

Herman

2011

Journal of Lipid Research

400

440

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Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata

Cited by 62 publications

References 10 publications

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Alkylglycerone phosphate synthase (AGPS) deficient mice: Models for rhizomelic chondrodysplasia punctata type 3 (RCDP3) malformation syndrome

Fluorine doping into diamond‐like carbon coatings inhibits protein adsorption and platelet activation

Malformation syndromes caused by disorders of cholesterol synthesis

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