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Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.

  • Caraffi SG Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. stefanogiuseppe.caraffi@ausl.re.it.
  • Maini I Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. imaini@ausl.pr.it.
  • Ivanovski I Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. ivan.ivanovski@ausl.re.it.
  • Pollazzon M Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. marzia.pollazzon@ausl.re.it.
  • Giangiobbe S Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. sara.giangiobbe@ausl.re.it.
  • Valli M Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. zuffardi@unipv.it.
  • Rossi A Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy. antonio.rossi@unipv.it.
  • Sassi S Rehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy. silvia.sassi@ausl.re.it.
  • Faccioli S Rehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy. silvia.faccioli@ausl.re.it.
  • Rocco MD Department of Pediatrics, Unit of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy. majadirocco@gaslini.org.
  • Magnani C Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department, University of Parma, 43121 Parma, Italy. cinzia.magnani@unipr.it.
  • Campos-Xavier B Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. belinda.xavier@chuv.ch.
  • Unger S Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. sheila.unger@chuv.ch.
  • Superti-Furga A Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland. asuperti@unil.ch.
  • Garavelli L Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy. livia.garavelli@ausl.re.it.
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  • 2019-10-17
Published in:
  • Genes. - 2019
Ehlers–Danlos syndrome (EDS)
SEMDJL-Beighton type)
beta-1,3-galactosyltransferase 6 (B3GALT6)
beta-1,4-galactosyltransferase 7 (B4GALT7)
doughy skin on the hands and feet
extreme laxity of distal joints
soft
spEDS-B3GALT6
spEDS-B4GALT7
spondylodysplastic Ehlers–Danlos syndrome (spEDS)
spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1
Cells, Cultured
Child
Child, Preschool
Ehlers-Danlos Syndrome
Galactosyltransferases
Humans
Joint Instability
Male
Muscle Hypotonia
Mutation
Osteochondrodysplasias
Phenotype
English Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as "linkeropathies". The two phenotypes related to mutations in genes B4GALT7 and B3GALT6 (encoding for galactosyltransferase I and II respectively) are similar, characterized by short stature, hypotonia, joint hypermobility, skeletal features and a suggestive face with prominent forehead, thin soft tissue and prominent eyes. The most outstanding feature of these disorders is the combination of severe connective tissue involvement, often manifesting in newborns and infants, and skeletal dysplasia that becomes apparent during childhood. Here, we intend to more accurately define some of the clinical features of B4GALT7 and B3GALT6-related conditions and underline the extreme hypermobility of distal joints and the soft, doughy skin on the hands and feet as features that may be useful as the first clues for a correct diagnosis.
Language
  • English
Open access status
gold
Identifiers
Persistent URL
https://folia.unifr.ch/global/documents/186112
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