Ehlers Danlos syndrome with a likely monogenic cause

Gene: CHST14

Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, musculocontractural type 1, 601776;EDSMC1;Musculocontractural EDS;mcEDS-CHST14;Adducted thumb-club foot syndrome (ATCS);EDS Kosho type (EDS-KT);D4ST1-deficient EDS

Created: 18 Mar 2021, 1:36 p.m. | Last Modified: 18 Mar 2021, 1:36 p.m.

Panel Version: 2.17

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: CHST14; Suggested initial gene rating: green

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

Green List (high evidence)

Green List (high evidence)

From Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225):
Recently, a number of rare autosomal recessive entities with distinct molecular and biochemical abnormalities that clinically overlap with kEDS have been described; kEDS due to PLOD1 mutations, kEDS due to FKBP14 mutations, the Brittle cornea syndrome (BCS) (ZNF469 and PRDM5), the spondylodysplastic form of EDS caused by SLC39A13 mutations (previously called spondylocheirodysplastic EDS), and musculocontractural EDS (CHST14 and DSE)

Created: 18 Apr 2017, 1:17 p.m.

Comment on publications: Added publications to support number of cases to date with Musculocontractural EDS (mcEDS-CHST14). Currently in the literature there are 39 cases (18 females, 21 males) from 26 unrelated families all with biallelic CHST14 variants; Dundar et al., 1997 (PMID:9084938), Muller et al., 2013 (PMID:23704329), Sonoda and Kouno, 2000 (PMID:10766984), Dunear et al., 2001 (PMID:11666007), Janecke et al., 2001 (PMID:11370633),Yasui et al., 2003 (PMID:12508273), Kosho et al., 2005 (PMID:16158441), Kosho et al., 2010 (PMID:20503305), Malfait et al., 2010 (PMID:20842734), Shimizu et al., 2011 (21744491), Mendoza-Londono et al., 2012 (PMID:22581468), Winters et al., 2012 (PMID:22987394), Voermans et al., 2012 (PMID:22407744), Syx et al., 2015 (PMID: 25703627), Janecke et al., 2016 (PMID:26373698),Mochida et al., 2016 (PMID:26872206)

Created: 6 Apr 2017, 12:20 p.m.

This gene is listed in the Ehlers Danlos Syndrome Variant Database https://eds.gene.le.ac.uk/home.php?select_db=CHST14.

Created: 6 Apr 2017, 8:53 a.m.

Comment on publications: Added publication for The Ehlers–Danlos Syndromes, rare types (PMID:28306225).

Created: 6 Apr 2017, 8:52 a.m.

In relation to the EDS pathogenetic scheme, CHST14 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: 6 Apr 2017, 8:39 a.m.

Comment on phenotypes: synonyms from Orphanet and PMID:28306229

Created: 4 Apr 2017, 3:16 p.m.

This is a rare recessive form of EDS

Created: 30 Mar 2017, 11:24 a.m.

Comment on phenotypes: Updated phenotype based on 2017 International Classification of the Ehlers–Danlos Syndromes. PMID:28306229

Created: 30 Mar 2017, 8:44 a.m.

Comment on list classification: Gene was added by expert and rated green. Added to the panel as green due to expert review and additional evidence; it is a confirmed DD gene for Ehlers-Danlos syndrome musculocontractural type and there are more than 3 cases/families reported in OMIM from different ethnicities and for different reported pathogenic variants.

Created: 6 Jun 2016, 3:19 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Comment on list classification: Rare recessive form of EDS

Created: 8 Apr 2016, 3:18 p.m.