One patient with developmental delay, macrocephaly, hypoplastic corpus callosum, metopic synostosis, and hematuria has been described with an intragenic microdeletion of exons 49 of NFIA [Rao et al., 2014]. Additionally, a family (a father and 3 children) had a 109-kb deletion of chromosome 1p31.3 (deleting exons 1 and 2 of NFIA ) [Nyboe et al., 2015]. Their phenotype comprised sagittal or lambdoid suture synostosis, macrocephaly, developmental delay and mild mental retardation, overgrowth, bilateral proximally placed first fingers, and low-set ears [Nyboe et al., 2015].; Review on behalf of Tracy Lester and Andrew Wilkie
Created: 11 Apr 2019, 8:40 a.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: NFIA; Suggested initial gene rating: amber
Created: 11 Apr 2019, 8:37 a.m.
gene: NFIA was added gene: NFIA was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: NFIA was set to