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Open AccessArticle

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

1
Medical Genetics Unit, Maternal and Child Health Department, Azienda USL-IRCCS of Reggio Emilia, 42122 Reggio Emilia, Italy
2
Child Neuropsychiatry Unit, Azienda USL of Parma, 43125 Parma, Italy
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Department of Surgical, Medical, Dental and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, 42121 Reggio Emilia, Italy
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Department of Molecular Medicine, Unit of Biochemistry, University of Pavia, 27100 Pavia, Italy
5
Rehabilitation Pediatric Unit, Azienda USL-IRCCS of Reggio Emilia, Reggio Emilia, 42122 Reggio Emilia, Italy
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Department of Pediatrics, Unit of Rare Diseases, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy
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Neonatology and Neonatal Intensive Care Unit, Maternal and Child Department, University of Parma, 43121 Parma, Italy
8
Division of Genetic Medicine, Centre Hospitalier Universitaire Vaudois (CHUV), University of Lausanne, 1011 Lausanne, Switzerland
*
Authors to whom correspondence should be addressed.
Genes 2019, 10(10), 799; https://doi.org/10.3390/genes10100799
Received: 30 August 2019 / Revised: 25 September 2019 / Accepted: 11 October 2019 / Published: 12 October 2019
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.
Keywords: beta-1,3-galactosyltransferase 6 (B3GALT6); beta-1,4-galactosyltransferase 7 (B4GALT7); spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; SEMDJL-Beighton type); Ehlers–Danlos syndrome (EDS); spondylodysplastic Ehlers–Danlos syndrome (spEDS); spEDS-B3GALT6; spEDS-B4GALT7; extreme laxity of distal joints; soft; doughy skin on the hands and feet beta-1,3-galactosyltransferase 6 (B3GALT6); beta-1,4-galactosyltransferase 7 (B4GALT7); spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL1; SEMDJL-Beighton type); Ehlers–Danlos syndrome (EDS); spondylodysplastic Ehlers–Danlos syndrome (spEDS); spEDS-B3GALT6; spEDS-B4GALT7; extreme laxity of distal joints; soft; doughy skin on the hands and feet
MDPI and ACS Style

Caraffi, S.G.; Maini, I.; Ivanovski, I.; Pollazzon, M.; Giangiobbe, S.; Valli, M.; Rossi, A.; Sassi, S.; Faccioli, S.; Rocco, M.D.; Magnani, C.; Campos-Xavier, B.; Unger, S.; Superti-Furga, A.; Garavelli, L. Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6. Genes 2019, 10, 799.

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