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Prenatal cortical hyperostosis with COL1A1 gene mutation

Agnès Kamoun-Goldrat1, Jelena Martinovic, Julien Saada

  • 1Paris Descartes University, INSERM U781, Hôpital Necker, Paris, France. agnes.kamoun@yahoo.fr

American Journal of Medical Genetics. Part A
|June 17, 2008
PubMed

Insights

Early-onset infantile cortical hyperostosis (Caffey disease) can be lethal. A case study identified a specific collagen I gene mutation linked to this severe prenatal form, challenging previous assumptions.

Area of Science:

  • Medical Genetics
  • Skeletal Dysplasias
  • Prenatal Diagnosis

Background:

  • Infantile cortical hyperostosis (Caffey disease) is typically benign postnatally but often lethal when presenting prenatally.
  • Previous research suggested prenatal forms were unrelated to collagen I gene mutations.

Observation:

  • A case of lethal prenatal infantile cortical hyperostosis was investigated.
  • Clinical, ultrasonic, radiographic, and pathological data were collected.
  • Prenatal ultrasound revealed shortened long bones; postmortem imaging showed skeletal hyperostosis.

Findings:

  • Histological examination confirmed infantile cortical hyperostosis in affected bones.
  • A heterozygous 3040C --> T missense mutation in the COL1A1 gene (encoding alpha 1 chain of type I collagen) was identified in fetal pulmonary tissue.
  • This mutation was previously not associated with severe prenatal Caffey disease.

Implications:

  • This finding suggests a potential genetic link between specific collagen I mutations and lethal prenatal infantile cortical hyperostosis.
  • Challenges the understanding of genotype-phenotype correlations in Caffey disease.
  • Highlights the importance of genetic testing in diagnosing severe prenatal skeletal abnormalities.

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