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

Details

Serval ID
serval:BIB_A45F263542B7
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6.
Journal
Genes
Author(s)
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.
ISSN
2073-4425 (Electronic)
ISSN-L
2073-4425
Publication state
Published
Issued date
12/10/2019
Peer-reviewed
Oui
Volume
10
Number
10
Language
english
Notes
Publication types: Case Reports ; Journal Article
Publication Status: epublish
Abstract
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
Cells, Cultured, Child, Child, Preschool, Ehlers-Danlos Syndrome/diagnosis, Ehlers-Danlos Syndrome/genetics, Ehlers-Danlos Syndrome/pathology, Galactosyltransferases/genetics, Humans, Joint Instability/genetics, Male, Muscle Hypotonia/genetics, Mutation, Osteochondrodysplasias/genetics, Phenotype, 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
Pubmed
Web of science
Open Access
Yes
Create date
16/12/2019 16:04
Last modification date
06/03/2020 6:20
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