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Discrepancies in upper and lower limb patterning in split hand foot malformation.

A M Elliott1, M H Reed, T Roscioli

  • 1Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada. amelliott@mts.net

Clinical Genetics
|October 7, 2005
PubMed
Summary

Split hand foot malformation (SHFM) shows distinct upper and lower limb differences. Preaxial upper limb anomalies are linked to the SHFM3 locus, while feet typically display central deficiencies.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Clinical Medicine

Background:

  • Split hand foot malformation (SHFM) is a genetically diverse condition with significant clinical variability.
  • Genetic heterogeneity and variable presentations complicate genetic counseling for SHFM families.
  • Establishing genotype/phenotype correlations is crucial for understanding developmental genes and improving genetic testing.

Purpose of the Study:

  • To investigate discrepancies in upper and lower limb patterning in SHFM.
  • To identify genotype/phenotype correlations for improved genetic counseling and targeted testing.
  • To explore potential mechanisms underlying differential limb involvement in SHFM.

Main Methods:

  • Analysis of genetically mapped SHFM cases.

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  • Descriptive epidemiology to identify limb-specific variables.
  • Discriminant function analysis to confirm significant locus discriminators (p < 0.0001).

    • Main Results:

    • Preaxial upper extremity involvement was a significant discriminating variable in SHFM.
    • This pattern, including triphalangeal thumbs and preaxial polydactyly, was most frequent at the SHFM3 locus (10q24).
    • Affected individuals often showed classical central longitudinal deficiency in feet, lacking significant preaxial components.

    Conclusions:

    • A discrepant clefting pattern exists between upper and lower extremities in SHFM.
    • Preaxial upper limb anomalies are strongly associated with the SHFM3 locus.
    • Further research into developmental mechanisms is needed to explain these limb-specific differences.