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Prenatal death in Fraser syndrome
Jessica M Comstock1, Angelica R Putnam, John M Opitz
1Department of Pathology, University of Utah, Salt Lake City, 84132, USA.
Fetal and Pediatric Pathology
|January 7, 2006
Summary
Cryptophthalmos, a rare developmental defect, is linked to mutations in the FRAS1 gene, causing severe anomalies and often leading to stillbirth or infant death.
Area of Science:
- Genetics
- Developmental Biology
- Ophthalmology
Background:
- Cryptophthalmos presents as a spectrum of ocular and systemic malformations.
- Fraser syndrome represents the syndromic form, characterized by severe developmental anomalies.
Observation:
- A study of stillborn infants prompted an analysis of Fraser syndrome's developmental aspects.
- Cryptophthalmos is a developmental field defect with diverse genetic and phylogenetic occurrences.
Findings:
- In humans, Fraser syndrome is an autosomal recessive disorder mapping to 4q21, caused by FRAS1 gene mutations.
- The condition is homologous to the bleb mouse model, involving a 4007 amino acid protein.
- Common anomalies include cryptophthalmos, syndactyly, renal agenesis, and congenital heart defects.
Implications:
- Pathogenesis involves impaired epithelial integrity during prenatal development.
- Understanding FRAS1 gene mutations is crucial for diagnosing and potentially managing Fraser syndrome.
- Historical publications offer insights into the syndrome's delineation and study.