Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: CYP26B1

Green List (high evidence)

Two unrelated families reported initially - 4 cases total. Three sibs had calvarial mineralization defects. Fourth case had coronal and lambdoid CSS (Laue et al 2011). Ko mice have radiohumeral synostosis and calvarial hypoplasia. Partial loss in zebrafish causes coronal synostosis. Morton et al 2016 report further case with MSS and a phenotype similar to ABS/Pfeiffer. No nonsense/fs reported so far ; Review on behalf of Tracy Lester/Andrew Wilkie

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416

I don't know

Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Now 3 cases

Created: 21 May 2019, 12:16 p.m.

Laue et al 2011 PMID: 22019272 - 2 families.
Morton et al 2016 PMID: 27410456 - 1 family

Created: 2 May 2019, 3:56 p.m.

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: CYP26B1; Suggested initial gene rating: green

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

Red List (low evidence)

Severe disorder, single report of 2 families with craniosynostosis in one of them

Created: 14 Sep 2015, 12:29 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Craniosynostosis and multiple skeletal anomalies

Publications

• 22019272