Krakow D et al. 2004 PMID: 14991055 Nonsense mutations affecting both alleles of FLNB have been shown to cause autosomal recessive spondylocarpotarsal synostosis syndrome (OMIM 272460). This study also identified autosomal dominant missense mutations or in-frame deletions are associated with a spectrum of skeletal dysplasias which include atelosteogenesis (AO) type I (OMIM 108720), atelosteogenesis type III (OMIM 108721) and Larsen syndrome (OMIM 150250). Bicknell LS et al. 2005 PMID: 15994868 identified heterozygous missense mutations of FLNB in patients with autosomal dominant boomerang dysplasia (OMIM 112310). Per GeneReviews, the "Larsen syndrome ? AO spectrum of conditions...are caused by normal expression of a structurally abnormal FLNB protein. " There is no evidence at this time to suggest that loss of a single copy of FLNB causes an abnormal phenotype. As such, we are giving this gene a score of 0 (in relation to the autosomal dominant phenotypes), and intend to reevaluate if additional evidence becomes available.
At the time of this review, there is no evidence to suggest focal duplications of this gene cause an abnormal phenotype.