A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency: Implications for early ageing

Michihiro Kono, Yoshie Hasegawa-Murakami, Kazumitsu Sugiura, Masashi Ono, Kazuhiro Toriyama, Noriko Miyake, Atsushi Hatamochi, Yuzuru Kamei, Tomoki Kosho, Masashi Akiyama

研究成果: Article

7 引用 (Scopus)

抄録

Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

元の言語English
ページ(範囲)830-831
ページ数2
ジャーナルActa Dermato-Venereologica
96
発行部数6
DOI
出版物ステータスPublished - 09-2016

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Ehlers-Danlos Syndrome
Craniofacial Abnormalities
Decorin
Skin Manifestations
Joint Instability
Dermatan Sulfate
Skin
Loss of Heterozygosity
Contracture
Glycosaminoglycans
Hematoma
Connective Tissue
Collagen
Mutation
Genes
dermatan-4-sulfotransferase-1
Ehlers-Danlos syndrome type 1
carbohydrate sulfotransferases
Ehlers-Danlos syndrome type 2

All Science Journal Classification (ASJC) codes

  • Dermatology

これを引用

Kono, Michihiro ; Hasegawa-Murakami, Yoshie ; Sugiura, Kazumitsu ; Ono, Masashi ; Toriyama, Kazuhiro ; Miyake, Noriko ; Hatamochi, Atsushi ; Kamei, Yuzuru ; Kosho, Tomoki ; Akiyama, Masashi. / A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency : Implications for early ageing. :: Acta Dermato-Venereologica. 2016 ; 巻 96, 番号 6. pp. 830-831.
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abstract = "Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.",
author = "Michihiro Kono and Yoshie Hasegawa-Murakami and Kazumitsu Sugiura and Masashi Ono and Kazuhiro Toriyama and Noriko Miyake and Atsushi Hatamochi and Yuzuru Kamei and Tomoki Kosho and Masashi Akiyama",
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Kono, M, Hasegawa-Murakami, Y, Sugiura, K, Ono, M, Toriyama, K, Miyake, N, Hatamochi, A, Kamei, Y, Kosho, T & Akiyama, M 2016, 'A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency: Implications for early ageing', Acta Dermato-Venereologica, 巻. 96, 番号 6, pp. 830-831. https://doi.org/10.2340/00015555-2390

A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency : Implications for early ageing. / Kono, Michihiro; Hasegawa-Murakami, Yoshie; Sugiura, Kazumitsu; Ono, Masashi; Toriyama, Kazuhiro; Miyake, Noriko; Hatamochi, Atsushi; Kamei, Yuzuru; Kosho, Tomoki; Akiyama, Masashi.

:: Acta Dermato-Venereologica, 巻 96, 番号 6, 09.2016, p. 830-831.

研究成果: Article

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T1 - A 45-year-old woman with Ehlers-Danlos syndrome caused by dermatan 4-o-sulfotransferase-1 deficiency

T2 - Implications for early ageing

AU - Kono, Michihiro

AU - Hasegawa-Murakami, Yoshie

AU - Sugiura, Kazumitsu

AU - Ono, Masashi

AU - Toriyama, Kazuhiro

AU - Miyake, Noriko

AU - Hatamochi, Atsushi

AU - Kamei, Yuzuru

AU - Kosho, Tomoki

AU - Akiyama, Masashi

PY - 2016/9

Y1 - 2016/9

N2 - Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

AB - Ehlers-Danlos syndrome (EDS) is a heterogeneous group of connective tissue disorders characterized by joint and skin laxity and tissue fragility (1). Dermatan 4-O-sulfotransferase-1 (D4ST1) deficiency, a recently delineated form of EDS caused by bi-allelic loss-offunction mutations in the carbohydrate sulfotransferase 14 gene (CHST14), is clinically characterized by multiple congenital malformations (craniofacial abnormalities, multiple congenital contractures, congenital heart/eye/ gastrointestinal defects) and progressive fragility-related manifestations (skin hyperextensibility and fragility, large subcutaneous haematomas, recurrent dislocations, progressive skeletal deformities) (2). Biochemical and pathological investigations on patients’ skin specimens suggest multisystem fragility caused by impaired assembly of collagen fibrils resulting from dermatan sulphate (DS) depletion in the decorin glycosaminoglycan (GAG) side chain (2). The disorder is currently called “EDS musculocontractural type 1” (MIM#601776) or “D4ST1-deficient EDS” (2). We report here a 45-yearold Japanese woman with the disorder.

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