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FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III 

FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III
Chapter:
FLNA and FLNB and Periventricular Nodular Heterotopia, the Otopalatodigital Spectrum Disorders, Spondylocarpotarsal Synostosis, Larsen Syndrome, and Atelosteogenesis Types I and III
Author(s):

Stephen P. Robertson

and Deborah Krakow

DOI:
10.1093/med/9780199934522.003.0187
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date: 28 February 2021

Filamins A, B, and C are cytoskeletal proteins that act by cross-linking the actin cytoskeleton into an orthogonal architecture. Loss-of-function mutations in FLNA and FLNB lead to a neuronal migration disorder, X-linked dominant periventricular nodular heterotopia (PH), and a skeletal dysplasia, autosomal recessive spondylocarpotarsal syndrome (SCT), respectively. PH is clinically characterized principally by epilepsy, while SCT presents with short stature and vertebral, carpal, and tarsal fusions. In sharp contrast to these disorders, clustered missense mutations predicted to introduce substitutions or small in-frame deletions and insertions into FLNA and FLNB produce markedly different phenotypes. The precise pathways leading to these disturbances in skeletal morphogenesis remain undefined but expression patterns of these two genes during development and documented interactions with known regulators of skeletal morphogenesis suggest that multiple mechanisms linking cell signaling to modulation of the cytoskeleton may contribute to these clinically complex conditions.

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