Further Defining the Phenotypic Spectrum of B3GAT3 Mutations and Literature Review on Linkeropathy Syndromes
| Autor: | Edoardo Giacopuzzi, Valeria Cinquina, Marina Venturini, Marco Ritelli, Nicola Chiarelli, Marina Colombi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Nosology lcsh:QH426-470 Adolescent Heart malformation spondylodysplastic Ehlers-Danlos syndrome spondylo-ocular syndrome linkeropathies Dwarfism B4GALT7 030105 genetics & heredity Biology Compound heterozygosity Osteochondrodysplasias Short stature Gerodermia osteodysplastica Article XYLT2 Marfan Syndrome 03 medical and health sciences Craniosynostoses Desbuquois dysplasia B3GAT3 Genetics medicine Humans Glucuronosyltransferase Genetics (clinical) B3GALT6 Larsen-like syndrome Linkeropathies Spondylo-ocular syndrome Spondylodysplastic Ehlers-Danlos syndrome XYLT1 Skin Diseases Genetic medicine.disease Phenotype lcsh:Genetics Arachnodactyly 030104 developmental biology Dysplasia Mutation Female medicine.symptom Bone Diseases Antley-Bixler Syndrome Phenotype |
| Zdroj: | Genes Volume 10 Issue 9 Genes, Vol 10, Iss 9, p 631 (2019) |
| ISSN: | 2073-4425 |
| Popis: | The term linkeropathies (LKs) refers to a group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region. Biallelic variants in XYLT1 and XYLT2, encoding xylosyltransferases, are associated with Desbuquois dysplasia type 2 and spondylo-ocular syndrome, respectively. Defects in B4GALT7 and B3GALT6, encoding galactosyltransferases, lead to spondylodysplastic Ehlers-Danlos syndrome (spEDS). Mutations in B3GAT3, encoding a glucuronyltransferase, were described in 25 patients from 12 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Herein, we report on a 13-year-old girl with a clinical presentation suggestive of spEDS, according to the 2017 EDS nosology, in whom compound heterozygosity for two B3GAT3 likely pathogenic variants was identified. We review the spectrum of B3GAT3-related disorders and provide a comparison of all LK patients reported up to now, highlighting that LKs are a phenotypic continuum bridging EDS and skeletal disorders, hence offering future nosologic perspectives. |
| Databáze: | OpenAIRE |
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