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FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Ariane Schmetz1, Jörg Schaper2, Simon Thelen3

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Multiple synostoses syndrome type 3 (SYNS3) is linked to novel FGF9 gene variants. This study identifies cleft palate and conductive hearing loss as potential features, highlighting significant family variability.

Keywords:
FGF9SYNS3cleft palatecraniosynostosesfusion of interphalangeal jointshuman geneticsmultiple synostoses syndrome type 3whole exome sequencing

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Area of Science:

  • Genetics
  • Orthopedics
  • Otolaryngology

Background:

  • Multiple synostoses syndrome (SYNS) encompasses genetically diverse autosomal dominant disorders marked by abnormal bone fusions, primarily affecting limbs and vertebrae.
  • Pathogenic variants in the FGF9 gene are implicated in SYNS type 3 (SYNS3), with limited variants reported in few individuals.
  • Conductive hearing loss has not been previously associated with SYNS3.

Observation:

  • This study details clinical and radiological findings in a large, multigenerational family presenting with a novel missense variant in the FGF9 gene (c.430T>C, p.(Trp144Arg)).
  • The family exhibited significant intrafamilial phenotypic variability, underscoring the complex presentation of SYNS3.
  • The observed phenotypes included joint fusions typical of SYNS, alongside newly identified features of cleft palate and conductive hearing loss.

Findings:

  • A novel missense variant, c.430T>C, p.(Trp144Arg) in the FGF9 gene, is identified as causative for SYNS3 in the studied family.
  • The findings expand the known phenotypic spectrum of SYNS3 to include cleft palate and conductive hearing loss.
  • Significant intrafamilial variability in clinical presentation was observed, even within the same family carrying the same genetic variant.

Implications:

  • This research broadens the understanding of SYNS3, suggesting that cleft palate and conductive hearing loss should be considered in the diagnostic evaluation of affected individuals.
  • The identification of a novel variant and expanded phenotype aids in more accurate genetic counseling for families affected by SYNS3.
  • Further research into the role of FGF9 in skeletal development and hearing is warranted to elucidate the mechanisms underlying SYNS3 and its associated features.