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Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency.
Lorenz, Delia; Kress, Wolfram; Zaum, Ann-Kathrin; Speer, Christian P; Hebestreit, Helge.
Afiliación
  • Lorenz D; Center for Rare Diseases, University Hospital Würzburg, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany.
  • Kress W; University Children's Hospital Würzburg, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany.
  • Zaum AK; Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
  • Speer CP; Department of Human Genetics, University of Würzburg, Biozentrum, Am Hubland, 97074, Würzburg, Germany.
  • Hebestreit H; University Children's Hospital Würzburg, University of Würzburg, Josef-Schneider-Strasse 2, 97080, Würzburg, Germany.
BMC Pediatr ; 21(1): 293, 2021 06 30.
Article en En | MEDLINE | ID: mdl-34193099
BACKGROUND: The spondylodysplastic Ehlers-Danlos subtype (OMIM #130070) is a rare connective tissue disorder characterized by a combination of connective tissue symptoms, skeletal features and short stature. It is caused by variants in genes encoding for enzymes involved in the proteoglycan biosynthesis or for a zinc transporter. PRESENTATION OF CASES: We report two brothers with a similar phenotype of short stature, joint hypermobility, distinct craniofacial features, developmental delay and severe hypermetropia indicative for a spondylodysplastic Ehlers-Danlos subtype. One also suffered from a recurrent pneumothorax. Gene panel analysis identified two compound heterozygous variants in the B4GALT7 gene: c.641G > A and c.723 + 4A > G. B4GALT7 encodes for galactosyltransferase I, which is required for the initiation of glycosaminoglycan side chain synthesis of proteoglycans. CONCLUSIONS: This is a first full report on two cases with spondylodysplastic Ehlers-Danlos syndrome and the c.723 + 4A > G variant of B4GALT7. The recurrent pneumothoraces observed in one case expand the variable phenotype of the syndrome.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enanismo / Síndrome de Ehlers-Danlos / Inestabilidad de la Articulación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enanismo / Síndrome de Ehlers-Danlos / Inestabilidad de la Articulación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Humans / Male Idioma: En Revista: BMC Pediatr Asunto de la revista: PEDIATRIA Año: 2021 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido