A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

ABSTRACT:

Background

Larsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied.

Methods

Probands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct sequencing and restriction endonuclease digestion. Clinical and radiographical features of the patients were evaluated.

Results and discussion

The

SUBMITTER: Bicknell LS 

PROVIDER: S-EPMC2598053 | biostudies-literature | 2007 Feb

REPOSITORIES: biostudies-literature