Truncating Mutations in the Carbohydrate Sulfotransferase 6 Gene (<i>CHST6</i>) Result in Macular Corneal Dystrophy

Niel, Florence; Ellies, Pierre; Dighiero, P.; Soria, J; Sabbagh, Celia; San, Chankannira; Renard, G; Delpech, Marc; Valleix, Sophie

doi:10.1167/iovs.02-0740

Cited by 31 publications

(23 citation statements)

References 11 publications

(17 reference statements)

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“…The identified known mutations have been observed among patients from several populations included India Saudi Arabia, Korea, Egypt, Japan, America and France [2,3,1517,18,23]. This additionally supports our findings showed a high degree of mutational heterogeneity among the patients studied.…”

Section: Discussionsupporting

confidence: 90%

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Genetic Analysis of CHST6 Gene in Indian Families with Macular Corneal Dystrophy

Murugan¹,

Prajna²,

Devin³

et al. 2017

IJGS

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Background:Unlike the western world, Macular Corneal Dystrophy (MCD) is the most common corneal stromal dystrophy in India. It is caused by mutations in the carbohydrate sulfotransferase 6 (CHST6) gene. So far, there are limited numbers of reports on CHST6 screening. Therefore, our screening of CHST6 gene in Indian families with MCD will be useful for genetic diagnosis, carrier detection and genetic counseling to families included in this study and other families with similar disease condition.

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Section: Discussionsupporting

confidence: 90%

“…It encodes a golgi resident enzyme N-acetyl glucosamine-6-O-sulfotransferase (C-GlcNac-6-ST) that catalyses the sulfation of keratan sulfate (KS) essential for corneal transparency [20][21][22]. Defect in CHST6 gene results in unsulfated keratan sulfate deposition eventually leading to MCD phenotype [23].…”

Section: Introductionmentioning

confidence: 99%

Genetic Analysis of CHST6 Gene in Indian Families with Macular Corneal Dystrophy

Murugan¹,

Prajna²,

Devin³

et al. 2017

IJGS

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“…The CHST6 gene has been reported to be involved in the pathogenesis of macular corneal dystrophy by affecting the synthesis of keratan sulfate [5][6][7][8][9][10][11][12][13][14]. Each of the novel coding region mutations detected here is predicted to cause significant changes in the encoded protein C-GlcNAc6ST.…”

Section: Discussionmentioning

confidence: 99%

“…Various mutation analyses of the CHST6 gene have revealed several missense and nonsense mutations that lead to inactivation of CHST6 within the coding region in patients with MCD type I. MCD type II patients, who have normal keratan sulfate levels in their serum, may additionally show large deletions and replacements caused by homologous recombination in the upstream region of the CHST6 gene, although CHST6 mutations have been described in MCD type II patients [6][7][8][9][10][11][12][13][14].…”

Section: Introductionmentioning

confidence: 99%

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options

Gruenauer-Kloevekorn

Braeutigam

Heinritz

et al. 2008

Graefes Arch Clin Exp Ophthalmol

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“…keratan sulfate metabolism were linked to macular corneal dystrophies (Hassell et al, 1980;Niel et al, 2003). During acquisition of corneal transparency, the developing cornea gains in KS, conversely wounding and loss of transparency, was associated with a decrease in KS (Funderburgh, 2000).…”

Section: Discussionmentioning

confidence: 99%

Collagen fibril assembly during postnatal development and dysfunctional regulation in the lumican‐deficient murine cornea

Chakravarti

Zhang

Chervoneva

et al. 2006

Developmental Dynamics

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The transparent cornea is the outer barrier of the eye and is its major refractive surface. Development of a functional cornea requires a postnatal maturation phase involving development, growth and organization of the stromal extracellular matrix. Lumican, a leucine-rich proteoglycan, is implicated in regulating assembly of collagen fibrils and the highly organized extracellular matrix essential for corneal transparency. We investigated the regulatory role(s) of lumican in fibril assembly during postnatal corneal development using wild type (Lum ϩ/ϩ ) and lumican-null (Lum Ϫ/Ϫ ) mice. In Lum ϩ/ϩ mice, a regular architecture of small-diameter fibrils is achieved in the anterior stroma by postnatal day 10 (P10), while the posterior stroma takes longer to reach this developmental maturity. Thus, the anterior and the posterior stroma follow distinct developmental timelines and may be under different regulatory mechanisms. In Lum Ϫ/Ϫ mice, it is the posterior stroma where abnormal lateral associations of fibrils and thicker fibrils with irregular contours are evident as early as P10. In contrast, the anterior stroma is minimally perturbed by the absence of lumican. In Lum ϩ/ϩ mice, lumican is expressed throughout the developing stroma at P10, with strong expression limited to the posterior stroma in the adult. Therefore, the posterior stroma, which is most vulnerable to lumican-deficiency, demonstrates an early developmental defect in fibril structure and architecture in the Lum Ϫ/Ϫ mouse. These defects underlie the reported increased light scattering and opacity detectable in the adult. Our findings emphasize the early regulation of collagen structure by lumican during postnatal development of the cornea. Developmental Dynamics 235:2493-2506, 2006.

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Truncating Mutations in the Carbohydrate Sulfotransferase 6 Gene (CHST6) Result in Macular Corneal Dystrophy

Abstract: These molecular results in French patients with MCD combined with those reported in previous studies indicated CHST6 mutational heterogeneity. The characterization herein of nonsense mutations is in keeping with the fact that MCD results from loss of function of the CHST6 protein product.

Cited by 31 publications

References 11 publications

Genetic Analysis of CHST6 Gene in Indian Families with Macular Corneal Dystrophy

Genetic Analysis of CHST6 Gene in Indian Families with Macular Corneal Dystrophy

Macular corneal dystrophy: mutational spectrum in German patients, novel mutations and therapeutic options

Collagen fibril assembly during postnatal development and dysfunctional regulation in the lumican‐deficient murine cornea

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