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Related Experiment Videos

Mosaicism in pseudoachondroplasia

H L Ferguson1, M Deere, R Evans

  • 1Department of Pediatrics, University of Texas Medical School at Houston, 77225-0708, USA.

American Journal of Medical Genetics
|June 13, 1997
PubMed
Summary

Pseudoachondroplasia (PSACH) is a skeletal dysplasia caused by COMP gene mutations. This study reveals somatic mosaicism, not autosomal recessive inheritance, is likely responsible for PSACH cases.

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Area of Science:

  • Genetics
  • Skeletal Dysplasias
  • Molecular Biology

Background:

  • Pseudoachondroplasia (PSACH) is a spondylo-epi-metaphyseal dysplasia.
  • It is characterized by disproportionate short stature, ligamentous laxity, and early-onset osteoarthritis.
  • Mutations in the cartilage oligomeric matrix protein (COMP) gene cause PSACH.

Observation:

  • Autosomal dominant inheritance is common in PSACH families.
  • Some severe familial cases suggested autosomal recessive inheritance.
  • Germline/somatic mosaicism was previously proposed for sporadic and dominant cases.

Findings:

  • This study presents evidence of somatic mosaicism in two PSACH families.
  • These families were initially thought to exhibit autosomal recessive inheritance.

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  • The findings suggest autosomal recessive inheritance is unlikely for PSACH.

    • Implications:

    • All PSACH cases should be investigated for COMP gene mutations.
    • Somatic mosaicism should be considered in the genetic diagnosis of PSACH.
    • This clarifies the genetic basis of pseudoachondroplasia, impacting diagnosis and genetic counseling.