Similar to our discoveries of the effect of mutations in the filamin A gene (FLNA), we have found that mutations in another related gene, filamin B (FLNB), lead to a similar spectrum of disorders with skeletal abnormalities featuring in the phenotype.
In 2004, in collaboration with Dr Deborah Krakow and Dr Dan Cohn, at the Institute of Medical Genetics at the Cedars Sinai Medical Research Center and the David Geffen School of Medicine, University of California, we identified mutations in the FLNB gene as being causative of Larsen syndrome, atelosteogenesis types 1 and 3 and spondylocarpotarsal syndrome.
In a similar fashion to our investigations with FLNA, a research programme is underway to determine why the observed mutations in FLNB lead to these particular phenotypes. Collaborators on this work include:
Funded by Cure Kids, the Health Research Council, and the Marsden Fund.
For more information, see the following research profile from the Health Research Council of New Zealand:
Unlocking the genetics of birth abnormalities (PDF 95 KB)