Your browser doesn't support javascript.
loading
Clinical and pathophysiological delineation of musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE): A detailed and comprehensive glycobiological and pathological investigation in a novel patient.
Minatogawa, Mari; Hirose, Takuya; Mizumoto, Shuji; Yamaguchi, Tomomi; Nagae, Chiai; Taki, Masashi; Yamada, Shuhei; Watanabe, Takafumi; Kosho, Tomoki.
Afiliación
  • Minatogawa M; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Hirose T; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Mizumoto S; Laboratory of Veterinary Anatomy, School of Veterinary Medicine, Rakuno Gakuen University, Ebetsu, Japan.
  • Yamaguchi T; Department of Pathobiochemistry, Faculty of Pharmacy, Meijo University, Nagoya, Japan.
  • Nagae C; Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan.
  • Taki M; Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan.
  • Yamada S; Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan.
  • Watanabe T; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Kosho T; Department of Pediatrics, St. Marianna University School of Medicine, Yokohama City Seibu Hospital, Yokohama, Japan.
Hum Mutat ; 43(12): 1829-1836, 2022 12.
Article en En | MEDLINE | ID: mdl-35842784
Musculocontractural Ehlers-Danlos syndrome caused by dermatan sulfate epimerase deficiency (mcEDS-DSE) is a rare connective tissue disorder. This is the first report describing the detailed and comprehensive clinical and pathophysiological features of mcEDS-DSE. The patient, with a novel homozygous nonsense variant (NM_013352.4:c.2601C>A:p.(Tyr867*)), exhibited mild skin hyperextensibility without fragility and small joint hypermobility, but developed recurrent large subcutaneous hematomas. Dermatan sulfate (DS) moieties on chondroitin sulfate/DS proteoglycans were significantly decreased, but remained present, in skin fibroblasts. Electron microscopy examination of skin specimens, including cupromeronic blue-staining to visualize glycosaminoglycan (GAG) chains, revealed coexistence of normally assembled collagen fibrils with attached curved GAG chains and dispersed collagen fibrils with linear GAG chains from attached collagen fibrils across interfibrillar spaces to adjacent fibrils. Residual activity of DS-epi1, encoded by DSE, and/or compensation by DS-epi2, a minor homolog of DS-epi1, may contribute to the mild skin involvement through this "mosaic" pattern of collagen fibril assembly.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dermatán Sulfato / Síndrome de Ehlers-Danlos Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Dermatán Sulfato / Síndrome de Ehlers-Danlos Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos