Cases with CSS in Shaw Am J Med Genet (2010) and Ittleman Am J Med Genet (2018),AW aware of one unpublished case and there are earlier clinical cases in literature. Specific mutations in NFIX cause Marshall-Smith, see Schanze Hum Mutat 14. Added by GOSH - Shaw et al (2010) reported Craniosynostosis in 5/38 (13%) of patients with MarshallSmith syndrome but no molecular confirmation. Ittleman et al (2018) reported patient with MarshallSmith syndrome BUT NFIX gene could not be conducted. ; Review on behalf of Tracy Lester/Andrew Wilkie/GOSH
Created: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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: NFIX; Suggested initial gene rating: amber
Created: 5 Mar 2019, 11:21 a.m.
Added phenotypes Marshall-Smith syndrome for gene: NFIX
gene: NFIX was added gene: NFIX was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: NFIX was set to