Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: JAG1

Green List (high evidence)

CSS is very rare complication - Kamath et al 2002 report 2 unrelated cases with unilateral coronal CSS. Mouse models support a role for JAG1 in cranial suture development. Very rare in relation to prevalence of Alagille, but likely meets criteria for green. Recent paper Narro-Donate Wold Neurosurg states it is the 4th case of JAG1 + CSS ; Review on behalf of Tracy Lester/Andrew Wilkie

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome

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.

Created: 21 May 2019, 10:41 a.m.

Comment on publications: Adding PMID: 29530693 - Narro-Donate et al 2018

Created: 2 May 2019, 4:30 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: JAG1; Suggested initial gene rating: green

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

Red List (low evidence)

Mouse models support a role for JAG1 in cranial suture development. Association is likely real, but craniosynostosis is a very rare complication in Alagille syndrome. Diagnosis should only be made if mutation type and other clinical features support a diagnosis of Alagille syndrome

Created: 15 Sep 2015, 6:41 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Alagille syndrome

Publications

• 23337010
• 12244552