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Related Experiment Videos

Anomalous inheritance in a kindred with split hand, split foot malformation.

M Spranger1, J Schapera

  • 1Department of Human Genetics, Medical School, University of Cape Town, Observatory, South Africa.

European Journal of Pediatrics
|February 1, 1988
PubMed
Summary

Split hand, split foot malformation (SHSF) in a South African family presented unusual inheritance patterns. Unaffected individuals produced affected offspring, suggesting unstable premutations or non-penetrance, not new mutations or recessive inheritance.

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Area of Science:

  • Genetics
  • Medical Genetics
  • Developmental Biology

Background:

  • Split hand, split foot malformation (SHSF) is a rare congenital limb anomaly.
  • Autosomal dominant inheritance is the typical pattern observed in SHSF.
  • Unusual pedigrees challenge conventional genetic models.

Purpose of the Study:

  • Investigate the genetic basis of SHSF in a South African family with an atypical pedigree.
  • Explore potential explanations for non-standard inheritance patterns.
  • Provide recommendations for genetic counseling and monitoring.

Main Methods:

  • Pedigree analysis of a South African family exhibiting SHSF.
  • Exclusion of common inheritance models like new mutation, germinal mosaicism, and autosomal recessive inheritance.

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  • Hypothesizing alternative genetic mechanisms such as unstable premutations or reduced penetrance.

    • Main Results:

    • The studied family displayed an unusual inheritance pattern where unaffected individuals produced affected offspring.
    • Standard genetic explanations (new mutation, germinal mosaicism, autosomal recessive inheritance) were deemed unlikely.
    • The findings suggest complex genetic factors, possibly involving unstable premutations or non-penetrance due to inhibiting factors.

    Conclusions:

    • The inheritance of SHSF in this family deviates from typical autosomal dominant patterns.
    • Unstable premutations or non-penetrance are proposed as plausible explanations for the observed phenomenon.
    • Prenatal ultrasound monitoring is recommended for unaffected relatives of SHSF individuals.