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Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.

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Developmental Dynamics : an Official Publication of the American Association of Anatomists
|January 9, 2019
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Bent bone dysplasia syndrome (BBDS) is linked to fibroblast growth factor receptor 2 (FGFR2) mutations. Increased FGFR2 in the nucleus causes limb bowing by disrupting musculoskeletal integration.

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bent bone dysplasia syndromeconnective tissuelimb development

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Area of Science:

  • Skeletal biology
  • Developmental biology
  • Genetics

Background:

  • Bent bone dysplasia syndrome (BBDS) is a congenital skeletal disorder.
  • It is caused by dominant mutations in fibroblast growth factor receptor 2 (FGFR2).
  • BBDS is characterized by bowed long bones in the limbs, with enhanced nuclear and nucleolar localization of FGFR2.

Purpose of the Study:

  • To investigate how altered subcellular distribution of FGFR2 affects limb development in BBDS.
  • To understand the mechanistic role of FGFR2 mutations in skeletal development.

Main Methods:

  • Targeted expression of BBDS-associated FGFR2 mutations in the lateral plate mesoderm of developing chick embryos.
  • Whole-mount and histological analyses of skeletal and musculoskeletal phenotypes.
  • Expression of wild-type FGFR2 with nuclear/nucleolar localization signals.

Main Results:

  • Targeted expression of BBDS mutations induced angulated hindlimbs and bent long bones.
  • Shortened bone collars, dysmorphic epiphyses, joint dislocations, and contractures were observed.
  • Histological analysis revealed irregularities in skeletal muscle patterning and tendon-to-bone attachment.
  • Phenotypes were recapitulated by expressing FGFR2 with enhanced nuclear/nucleolar localization signals.

Conclusions:

  • Bent long bones in BBDS result from disrupted musculoskeletal integration.
  • Increased nuclear and nucleolar localization of FGFR2 is mechanistically involved in the BBDS phenotype.
  • FGFR2's subcellular localization is critical for normal limb development.