Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: ESCO2
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 WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts syndrome, SC phocomelia syndrome
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Personal communication from Professor Wilkie – seen a case personally (unpublished evidence)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: amberCreated: 5 Mar 2019, 11:21 a.m.
Publications
Craniosynostosis is low frequency complication of Roberts syndrome; only diagnose when other features of Roberts syndrome presentCreated: 14 Sep 2015, 3:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Roberts syndrome
Publications
Publications for gene: ESCO2 were set to
Gene: esco2 has been classified as Amber List (Moderate Evidence).
Added phenotypes Roberts syndrome; SC phocomelia syndrome for gene: ESCO2
Source NHS GMS was added to ESCO2.
This gene has been classified as Red List (Low Evidence).
ESCO2 was added to Craniosynostosis syndromespanel. Sources: Expert list