Ehlers Danlos syndrome with a likely monogenic cause

Gene: B4GALT7

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1

Created: 18 Mar 2021, 1:31 p.m. | Last Modified: 18 Mar 2021, 1:31 p.m.

Panel Version: 2.12

Green List (high evidence)

I don't know

This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: B4GALT7; Suggested initial gene rating: green

Created: 3 Apr 2019, 3:41 p.m.

Green List (high evidence)

Green List (high evidence)

Comment on publications: added Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225)

Created: 18 Apr 2017, 12:50 p.m.

In relation to the EDS pathogenetic scheme, B4GALT7 belongs to 'Disorders of glycosaminoglycan biosynthesis'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.

Created: 18 Apr 2017, 12:25 p.m.

This is a rare recessive form of EDS

Created: 30 Mar 2017, 11:23 a.m.

Comment on phenotypes: updated phenotypes based on reviewer comment and from publications, including clinical EDS subtype (The 2017 International Classification of the Ehlers–Danlos Syndromes. PMID:28306229)

Created: 29 Mar 2017, 3:45 p.m.

Comment on list classification: Changed status from Red to Green, there is enough evidence to support the EDS phenotype

Created: 29 Mar 2017, 12:38 p.m.

Comment on publications: At present seven patients from six families with molecularly confirmed spEDS-B4GALT7 have been identified

Created: 29 Mar 2017, 12:37 p.m.

In view of the major clinical overlap of EDS caused by B4GALT7 mutations with the phenotypes caused by B3GALT6 and SLC39A13 mutations, these three conditions are now grouped within the same clinical entity (“Spondylodysplastic EDS”) in the new EDS classification (PMID:28306229)

Created: 29 Mar 2017, 12:08 p.m.

Comment on publications: Added publications suggested by reviewer

Created: 29 Mar 2017, 11:56 a.m.

Comment on mode of inheritance: updated MOI due to reviewer recommendation and from data in publications

Created: 29 Mar 2017, 11:55 a.m.

Green List (high evidence)

https://eds.gene.le.ac.uk/home.php?select_db=B4GALT7

Created: 24 Mar 2017, 2:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progeroid EDS

Publications

• PMID: 23956117
• 10506123
• 10473568
• 12417421
• 15859521
• 15211654
• 15589118
• 16583246