FMN2

In Dec 2014 we published an article in American Journal of Human Genetics reporting the identification of the  gene for formin-2 (FMN2) as a gene for non-syndromic autosomal recessive ID: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4259997/

Law_FMN2_2014

We used homozygosity mapping from a single large Pakistani family (Vincent group) and an Egyptian family (Gleeson group), followed by whole exome sequencing, and identified homozygous truncating mutations in both.

The FMN2 locus is now also listed in OMIM as MRT47: http://omim.org/entry/616193

Scroll to Top