Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: ESCO2

I don't know

Craniofacial anomalies - oxycephalic skull like Crouzon in one case (not genetically confirmed?). Genereviews: Craniofacial abnormalities listed don't include CSS: microbrachycephaly listed. CSS occasional, refs 27-30 in Twigg/Wilkie review ; Review on behalf of Tracy Lester and Andrew Wilkie

Created: 5 Mar 2019, 11:33 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome, SC phocomelia syndrome

I don't know

Comment on list classification: Changing the rating from red to amber. 2 published cases plus one seen in a clinic.

Created: 17 Sep 2019, 11 a.m. | Last Modified: 17 Sep 2019, 11 a.m.

Panel Version: 1.128

Review from Helen Lord:
PMID: 31192177 - Colombo et al 2019 - 2 unrelated children – one Turkish and one Iranian, both patients had craniosynostosis as part of their phenotype. WES on these two trios identified two different homozygous inactivating variants (one splicing and 1 frameshift) in the ESCO2 gene.

Personal communication from Professor Wilkie – seen a case personally (unpublished evidence)

Also
PMID: 19574259 - Vega et al 2010 - provide clinical data for 31 patients from 26 families with proven ESCO2 mutations and combine this series with previously reported clinical and mutation data on 18 cases. Craniosynostosis is NOT mentioned directly in this paper.

Created: 27 Aug 2019, 11:02 a.m. | Last Modified: 27 Aug 2019, 11:02 a.m.

Panel Version: 1.127

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ESCO2; Suggested initial gene rating: amber

Created: 5 Mar 2019, 11:21 a.m.

Publications

• 31192177

Red List (low evidence)

Craniosynostosis is low frequency complication of Roberts syndrome; only diagnose when other features of Roberts syndrome present

Created: 14 Sep 2015, 3:15 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Roberts syndrome

Publications

• 19574259