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R. Pudas, T. Kiema, P. Butler, M. Stewart, J. Ylänne (2005)
Structural basis for vertebrate filamin dimerization.Structure, 13 1
L. Bicknell, Timothy Morgan, L. Bonafė, Marja Wessels, M. Bialer, P. Willems, Daniel Cohn, D. Krakow, Stephen Robertson (2005)
Mutations in FLNB cause boomerang dysplasiaJournal of Medical Genetics, 42
Connie Schultz, Leonard Langer, Renata Laxova, Richard Pauli (1999)
Atelosteogenesis type III: long term survival, prenatal diagnosis, and evidence for dominant transmission.American journal of medical genetics, 83 1
(1998)
Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha
M. Gimona, K. Djinović-Carugo, W. Kranewitter, S. Winder (2002)
Functional plasticity of CH domainsFEBS Letters, 513
K. Kozłowski, D. Sillence, R. Cortis-Jones, R. Osborn (1985)
Boomerang dysplasia.The British journal of radiology, 58 688
N. Canki‐Klain, V. Stanescu, R. Stanescu, J. Šinkovec, M. Debevec, P. Maroteaux (1992)
Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe "boomerang dysplasia"?Annales de genetique, 35 3
L. Larsen, L. Larsen, L. Larsen, E. Schottstaedt, E. Schottstaedt, E. Schottstaedt, F. Bost, F. Bost, F. Bost (1950)
Multiple congenital dislocations associated with characteristic facial abnormality.The Journal of pediatrics, 37 4
S. Robertson, S. Twigg, A. Sutherland-Smith, V. Biancalana, R. Gorlin, D. Horn, S. Kenwrick, C. Kim, E. Morava, R. Newbury-Ecob, K. Ørstavik, O. Quarrell, C. Schwartz, D. Shears, M. Suri, J. Kendrick-jones, A. Wilkie (2003)
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansNature Genetics, 33
H. Stern, J. Graham, J. Graham, R. Lachman, W. Horton, P. Bernini, P. Spiegel, J. Bodurtha, E. Ives, M. Bocian, D. Rimoin (1990)
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type II.American journal of medical genetics, 36 2
A. Flier, Arnoud Sonnenberg (2001)
Structural and functional aspects of filamins.Biochimica et biophysica acta, 1538 2-3
Takafuta (1998)
17531J Biol Chem, 273
S. Yang, J. Roskamp, C. Liu, R. Frates, D. Singer (1983)
Two lethal chondrodysplasias with giant chondrocytes.American journal of medical genetics, 15 4
G. Thieme, Verlag New, York Atelosteogenesis, K. Kozłowski, E. Bateson (1984)
AtelosteogenesisFrontschr Röntgenstr, 140
D. Sillence, R. Lachman, T. Jenkins, V. Riccardi, Rimoin Dl (1982)
Spondylohumerofemoral hypoplasia (giant cell chondrodysplasia): a neonatally lethal short-limbed skeletal displasia.American journal of medical genetics, 13 1
Maroteaux (1982)
15Am J Med Genet, 13
L. Langer, R. Gorlin, D. Donnai, B. Hamel, C. Clericuzio (1994)
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar).American journal of medical genetics, 51 1
Tenconi (1983)
378Rofo, 138
C. Cunningham, J. Gorlin, D. Kwiatkowski, J. Hartwig, P. Janmey, HR Byers, T. Stossel (1992)
Actin-binding protein requirement for cortical stability and efficient locomotion.Science, 255 5042
R. Tenconi, K. Kozlowski, G. Largaiolli (1983)
Boomerang dysplasia. A new form of neonatal death dwarfism.RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin, 138 3
A. Hunter, B. Carpenter (1991)
Atelosteogenesis I and boomerang dysplasia: a question of nosologyClinical Genetics, 39
Canki-Klain (1992)
129Ann Genet, 35
F. Norwood, A. Sutherland-Smith, N. Keep, N. Keep, J. Kendrick-jones (2000)
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy.Structure, 8 5
D. Krakow, S. Robertson, L. King, T. Morgan, Eiman Sebald, C. Bertolotto, S. Wachsmann-Hogiu, D. Acuna, S. Shapiro, T. Takafuta, S. Aftimos, C. Kim, H. Firth, C. Steiner, V. Cormier-Daire, A. Superti-Furga, L. Bonafė, J. Graham, A. Grix, C. Bacino, J. Allanson, M. Bialer, R. Lachman, D. Rimoin, D. Cohn (2004)
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesisNature Genetics, 36
K. Kozłowski, T. Tsuruta, Y. Kameda, A. Kan, G. Leslie (1981)
New forms of Neonatal Death DwarfismPediatric Radiology, 10
The filamins are a family of cytoplasmic proteins that bind to and organize actin filaments, link membrane proteins to the cytoskeleton, and provide a scaffold for signaling molecules. Mutations in the gene encoding filamin B (FLNB) cause a spectrum of osteochondrodysplasias, including atelosteogenesis type I (AOI) and atelosteogenesis type III (AOIII). AOI and AOIII are autosomal dominant lethal skeletal dysplasias characterized by overlapping clinical findings that include vertebral abnormalities, disharmonious skeletal maturation, hypoplastic long bones, and joint dislocations. Previous studies have shown that heterozygosity for missense mutations that alter the CH2 domain and repeat 6 region of filamin B produce AOI and AOIII. In this study, 14 novel missense mutations in FLNB were found in 15 unrelated patients with AOI and AOIII. The majority of the mutations resided in exon 2 and exon 3, which encode the CH2 domain of the actin‐binding region of filamin B. The remaining mutations were found in exon 28 and exon 29, which encode repeats 14 and 15 of filamin B. These results show that clustering of mutations in two regions of FLNB produce AOI/AOIII, and highlight the important role of this cytoskeletal protein in normal skeletogenesis. Hum Mutat 27(7), 705–710, 2006. Published 2006 Wiley‐Liss, Inc.
Human Mutation – Wiley
Published: Jul 1, 2006
Keywords: FLNB; filamin B; skeletal dysplasia; atelosteogenesis I; atelosteogenesis III; CHD2
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