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Related Experiment Videos

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

Klaus Wilbrandt Kjaer1, Jess Hedeboe, Merete Bugge

  • 1Department of Medical Genetics, Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark. klaus@medgen.ku.dk

American Journal of Medical Genetics
|July 13, 2002
PubMed
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A genetic mutation in the HOXD13 gene causes axial synpolydactyly (SPD), a bone malformation disorder. Researchers identified this mutation in a rediscovered family, noting a range of symptoms from severe to undetectable bone issues.

Area of Science:

  • Genetics
  • Orthopedics
  • Human Evolution

Background:

  • Autosomal dominant axial synpolydactyly (SPD), also known as the Vordingborg type, was first described in a seven-generation family in 1927.
  • Expansion of a polyalanine tract in the HOXD13 gene is the established genetic cause of SPD.
  • Understanding the genetic basis and phenotypic variability of SPD is crucial for diagnosis and management.

Purpose of the Study:

  • To re-examine the family initially described by Oluf Thomsen with autosomal dominant axial synpolydactyly.
  • To identify the specific genetic mutation responsible for SPD in this family.
  • To characterize the phenotypic spectrum associated with the identified HOXD13 mutation.

Main Methods:

  • Pedigree analysis and clinical examination of affected individuals.

Related Experiment Videos

  • DNA sequencing to identify mutations in the HOXD13 gene.
  • Dermatoglyphic analysis to detect genetic status in cases with inapparent bone malformations.

    • Main Results:

    • The study successfully re-identified members of Thomsen's original family.
    • A 9-triplet polyalanine expansion in the HOXD13 gene was detected and confirmed to segregate with the SPD disorder.
    • Phenotypic manifestations varied significantly, including severe bone malformations and, in some cases, inapparent skeletal abnormalities detectable only through dermatoglyphics.

    Conclusions:

    • The 9-triplet polyalanine expansion in HOXD13 is the causative mutation for axial synpolydactyly in the studied family.
    • The phenotypic spectrum of HOXD13-associated SPD is broader than previously recognized, encompassing subclinical presentations.
    • Dermatoglyphics can serve as a valuable diagnostic tool for identifying genetic carriers of SPD with minimal or no overt bone malformations.