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Related Experiment Videos

GDF5 is a second locus for multiple-synostosis syndrome.

Katherine Dawson1, Petra Seeman, Eiman Sebald

  • 1Kaiser Permanente, Oakland, CA, USA.

American Journal of Human Genetics
|March 15, 2006
PubMed
Summary

Multiple synostosis syndrome, a genetic disorder causing bone fusions, can result from mutations in either the NOGGIN or GDF5 gene, indicating genetic heterogeneity. This finding expands our understanding of the molecular basis of this condition.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • Multiple synostosis syndrome is an autosomal dominant disorder.
  • It is characterized by progressive symphalangism, carpal/tarsal fusions, deafness, and mild facial dysmorphism.
  • Previously, heterozygosity for null mutations in the NOGGIN gene was identified as the cause.

Purpose of the Study:

  • To investigate the genetic basis of multiple synostosis syndrome in patients without NOGGIN mutations.
  • To identify novel genes associated with multiple synostosis syndrome.
  • To elucidate the genetic heterogeneity of multiple synostosis syndrome.

Main Methods:

  • Genetic linkage studies were performed in a four-generation family.
  • Polymorphic markers flanking the GDF5 locus were analyzed.

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  • Sequence analysis of the GDF5 gene was conducted in affected individuals.

    • Main Results:

    • Linkage studies excluded the NOGGIN locus in one family.
    • Cosegregation of GDF5 locus markers with the disease was observed.
    • A novel missense mutation (R438L) in the GDF5 gene was identified in affected individuals.
    • The identified GDF5 mutation resulted in a secreted mature GDF5 dimer, distinct from mutations causing haploinsufficiency.

    Conclusions:

    • Multiple synostosis syndrome exhibits genetic locus heterogeneity.
    • Mutations in either the NOGGIN or GDF5 gene can cause multiple synostosis syndrome.
    • This study identifies GDF5 as a second gene associated with multiple synostosis syndrome.