Mutations responsible for Larsen syndrome cluster in the FLNB protein.

ABSTRACT:

Background

A gene for Larsen syndrome was recently described, and mutations were reported in five cases.

Objective

To test whether mutations in this gene, FLNB, could explain the disease in our independent collection of sporadic and dominant Larsen syndrome cases; and to test whether mutations occurred in a non-random pattern.

Results

Missense mutations were found in each of five cases. Four of the five were new; one was reported in a sporadic case in the original Larsen syndrome study of five cases. All mutations from the two studies were compiled. Clustered mutations were observed within three filamin B protein domains: the calponin homology 2 domain, repeat 14, and repeat 15. This suggested that as few as five (of the total of 46) coding exons of FLNB could be scre

SUBMITTER: Zhang D 

PROVIDER: S-EPMC2564529 | biostudies-literature | 2006 May

REPOSITORIES: biostudies-literature