Alterations of gene NFIB cause macrocephaly

An analysis of 18 individuals with intellectual disability and macrocephaly has pointed to alterations of NFIB gene.

NFIB gene product play important role in development of many organs, including brain. Alterations of its structure were previously associated with developmental delay in single individual.

The new study found that the gene was modified in 18 patients (aged 3-33 years): eight with single mutations (leading to shorter and/or non-functional protein product) and ten with region deletion (leading to lack of the gene).

Model animal experiments confirmed causal role – mice without NFIB gene had enlarged cortex.

More: “NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly”, I. Schanze et al., 2018, doi:10.1016/j.ajhg.2018.10.006.