Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome

Kosho, Tomoki

doi:10.5772/55026

Cited by 12 publications

(19 citation statements)

References 29 publications

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“…4 To date, 31 patients from 21 families have been reported. 1 The present patient, having typical facial, cutaneous and skeletal features, suffered from large subcutaneous hematomas. Recurrent large subcutaneous hematomas are one of the most serious complications in the disorder, though the pathophysiology is unknown.…”

mentioning

confidence: 66%

“…Cutaneous mucinosis is a rare skin disease characterized by the accumulation of mucin in the dermis and rarely associated with HIV infection. 1 Diffuse CM is classified into six entities. Of 20 previously reported HIV-associated CM cases, 16 reportedly involved papular mucinosis or lichen myxedematosus.…”

Section: Case Of Cutaneous Mucinosis With Hiv Infectionmentioning

confidence: 99%

“…Of 20 previously reported HIV-associated CM cases, 16 reportedly involved papular mucinosis or lichen myxedematosus. [1][2][3][4] Our case differs from the discrete type of lichen myxedematosus in that each eruption was larger (10-20 mm) and the mean eruption density was lower. A few patients had oral candidia-Correspondence: Naoko Wada, M.D., Department of Dermatology, Kyushu University Graduate School of Medicine, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.…”

Section: Case Of Cutaneous Mucinosis With Hiv Infectionmentioning

confidence: 99%

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Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

Mochida

Amano

Miyake

et al. 2016

The Journal of Dermatology

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mentioning

confidence: 66%

Section: Case Of Cutaneous Mucinosis With Hiv Infectionmentioning

confidence: 99%

Section: Case Of Cutaneous Mucinosis With Hiv Infectionmentioning

confidence: 99%

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Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

Mochida

Amano

Miyake

et al. 2016

The Journal of Dermatology

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“…Forty patients from 27 families have been reported to date, including other mutations in CHST14 (p.Arg29Glyfs*113, p.Gln133Argfs:14, p.Cys152Leufs*10, p.Phe209Ser, p.Arg218Ser, p.Gly228Leufs*13, p.Glu262Lys, p.Arg274Pro, p.Met280Leu, and pTrp327Cysfs*29) [11,12,41,43,44,45,46,47,48,49,50,51,52,53,54,55,56,57,58]. CHST14 mutations cause a defect in DS side chains on the core protein, decorin, and affect the formation of collagen fibrils.…”

Section: Human Disorders Affecting the Skeleton And Skin Caused Bymentioning

confidence: 99%

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

et al. 2017

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The indispensable roles of dermatan sulfate-proteoglycans (DS-PGs) have been demonstrated in various biological events including construction of the extracellular matrix and cell signaling through interactions with collagen and transforming growth factor-β, respectively. Defects in the core proteins of DS-PGs such as decorin and biglycan cause congenital stromal dystrophy of the cornea, spondyloepimetaphyseal dysplasia, and Meester-Loeys syndrome. Furthermore, mutations in human genes encoding the glycosyltransferases, epimerases, and sulfotransferases responsible for the biosynthesis of DS chains cause connective tissue disorders including Ehlers-Danlos syndrome and spondyloepimetaphyseal dysplasia with joint laxity characterized by skin hyperextensibility, joint hypermobility, and tissue fragility, and by severe skeletal disorders such as kyphoscoliosis, short trunk, dislocation, and joint laxity. Glycobiological approaches revealed that mutations in DS-biosynthetic enzymes cause reductions in enzymatic activities and in the amount of synthesized DS and also disrupt the formation of collagen bundles. This review focused on the growing number of glycobiological studies on recently reported genetic diseases caused by defects in the biosynthesis of DS and DS-PGs.

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“…EDS was classified into six major types: classical type (MIM#130000), hypermobility type (MIM%130020), vascular type (MIM 130050), kyphoscoliosis type (MIM#225400), arthrochalasia type (MIM#130060), and dermatosparaxis type (MIM#225410) (Table ) . Additional forms of EDS have also been identified in association with molecular and biochemical abnormalities (Table ) . This review article provides a brief history and describes the clinical features and molecular, glycobiological, and pathological characteristics of a recently delineated form of EDS caused by carbohydrate sulfotransferase 14/dermatan 4‐ O ‐sulfotransferase‐1 (CHST14/D4ST1) deficiency.…”

Section: Classification Of Ehlers–danlos Syndrome (Eds)mentioning

confidence: 99%

CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

Kosho

2016

Pediatrics International

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Carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase-1 (CHST14/D4ST1) deficiency represents a specific form of Ehlers-Danlos syndrome (EDS) caused by recessive loss-of-function mutations in CHST14. The disorder has been independently termed "adducted thumb-clubfoot syndrome", "EDS, Kosho type", and "EDS, musculocontractural type". To date, 31 affected patients from 21 families have been described. Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and rotated ears, high palate, long philtrum, thin upper lip vermilion, small mouth, and micro-retrognathia; multiple congenital contractures including adduction-flexion contractures and talipes equinovarus as well as other visceral or ophthalmological malformations) and progressive multisystem fragility-related complications (skin hyperextensibility, bruisability, and fragility with atrophic scars; recurrent dislocations; progressive talipes or spinal deformities; pneumothorax or pneumohemothorax; large subcutaneous hematomas; and diverticular perforation). Etiologically, multisystem fragility is presumably caused by impaired assembly of collagen fibrils resulting from loss of dermatan sulfate (DS) in the decorin glycosaminoglycan side chain that promotes electrostatic binding between collagen fibrils. This is the first reported human disorder that specifically affects biosynthesis of DS. Its clinical characteristics indicate that CHST14/D4ST1 and, more fundamentally, DS, play a critical role in fetal development and maintenance of connective tissues in multiple organs. Considering that patients with CHST14/D4ST1 deficiency develop progressive multisystem fragility-related manifestations, establishment of a comprehensive and detailed natural history and health-care guidelines as well as further elucidation of the pathophysiology in view of future etiology-based therapy are crucial.

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Discovery and Delineation of Dermatan 4-O-Sulfotransferase-1 (D4ST1)-Deficient Ehlers-Danlos Syndrome

Cited by 12 publications

References 29 publications

Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back

Pathophysiological Significance of Dermatan Sulfate Proteoglycans Revealed by Human Genetic Disorders

CHST14/D4ST1 deficiency: New form of Ehlers–Danlos syndrome

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