FLNB-related disorders, including: ;
Atelostogenesis, type I;
Boomerang dysplasia;
Atelosteogenesis, type III;
Larsen syndrome

The FLNB-related disorders include mild to severe osteochondrodysplasias with congenital joint dislocation. AOI and AOIII are lethal or semilethal disorders. Mutations in the gene encoding filamin B (FLNB) are associated with these disorders.

Skeletal dysplasia

FLNB [HSA:2317] [KO:K04437]

PMID:20301736 (description, gene)

Robertson S

FLNB-Related Disorders

(1993)

PMID:16752402 (description, gene)

Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA, Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D

Mutations in two regions of FLNB result in atelosteogenesis I and III.

Hum Mutat. 27:705-10 (2006)

PMID:9409862 (description)

Nishimura G, Horiuchi T, Kim OH, Sasamoto Y

Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.

Am J Med Genet 73:132-8 (1997)