Ades et al 2006 report cases with MFS and CSS (Furlong syndrome), phenotypically similar to Shprintzen-Goldberg. 2 cases had FBN1 mutations - one had scaphocephaly w indistinct coronal sutures & partial sagittal synostosis. Second had plagiocephaly with patent coronal, lambdoid and sagittal sutures. A third case had FBN1 deletion with dolichocephaly. Further case with craniosynostosis reported in Miller et al (2017) ; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 5 Mar 2019, 11:33 a.m.
PMID: 16596670 - Ades et al 2006 - report 2 patients with heterozygous FBN1 mutations (Patients 1 and 2) and a patient with a heterozygous FBN1 deletion (Patient 5). Patient 1 had Marfan syndrome with scaphocephaly, unusually rounded orbital rims and recession of the right orbital and frontal regions. Coronal sutures were indistinct. The anterior half of the sagittal suture was fused. Patient 2 had severe early onset Marfan sydnrome and plagiocephaly with coronal, lambdoid, and sagittal sutures. Patient 5 had marfanoid (MD) features, mental retardation (MR), and dolichocephaly.
PMID: 27884935 - Miller et al 2017 - report a case of a patient with craniosynostosis and a de novo splice variant affecting FBN1. c.8226+5G>A.
Created: 10 Nov 2019, 11:38 p.m. | Last Modified: 10 Nov 2019, 11:38 p.m.
Panel Version: 2.0
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: FBN1; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Very rare association. Only likely to be significant if other features of Marfan syndrome present
Created: 14 Sep 2015, 12:20 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Marfan syndrome for gene: FBN1
Source NHS GMS was added to FBN1.
This gene has been classified as Red List (Low Evidence).
FBN1 was added to Craniosynostosis syndromespanel. Sources: Expert list