Disorders caused by mutations in FLNB, the Larsen syndrome-atelosteogenesis spectrum

In an analogous fashion to that observed with FLNA, clustered mutations in another, related gene, FLNB lead to a similar spectrum of disorders, again with a strong skeletal component to the phenotype. In 2004, in collaboration with Dr Deborah Krakow and Dr Dan Cohn, both at the Institute of Medical Genetics at the Cedars Sinai Medical Research Center and at the David Geffen School of Medicine, University of California, Los Angeles, 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 strong research programme is underway to determine why the observed types and distributions of mutation lead to these particular phenotypes. Collaborators on this work include:

• Dr Deborah Krakow, Cedars Sinai Medical Center, UCLA
• Dr Andrew Sutherland-Smith, Massey University

Funded by the Child Health Research Foundation of New Zealand
and the Health Research Council of New Zealand
Unlocking the genetics of birth abnormalities (pdf)