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Fraser syndrome without cryptophthalmos: Two cases.

S Boussion1, S Lyonnet2, B Van Der Zwaag3

  • 1CHU Lille, Clinique de Génétique, F-59000, Lille, France; Univ. Lille, RADEME, EA 7364, F-59000, Lille, France.

European Journal of Medical Genetics
|January 11, 2020
PubMed
Summary
This summary is machine-generated.

Two Fraser syndrome cases with FRAS1 gene mutations lacked cryptophthalmos, expanding the known clinical spectrum. These findings highlight milder presentations and potential genotype-phenotype correlations in this rare genetic disorder.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Genetics

Background:

  • Fraser syndrome is an autosomal recessive disorder linked to mutations in FRAS1, FREM2, and GRIP1 genes.
  • It typically presents with cryptophthalmos, syndactyly, urinary tract, and laryngo-tracheal anomalies.

Observation:

  • Two atypical Fraser syndrome cases were identified, notably lacking cryptophthalmos.
  • The first case exhibited syndactyly, nostril coloboma, dysplastic ears, and hearing loss.
  • The second case presented with syndactyly, renal agenesis, laryngeal/ano-rectal malformations, and hearing loss.

Findings:

  • Molecular analysis revealed compound heterozygous pathogenic variants in FRAS1 (nonsense and missense) in the first proband.
  • The second proband had a homozygous pathogenic variant in the last exon of FRAS1.
  • These cases represent the first molecularly confirmed Fraser syndrome instances without cryptophthalmos.

Implications:

  • This study expands the clinical and genetic understanding of Fraser syndrome, particularly milder phenotypes.
  • It suggests FRAS1 mutations can cause Fraser syndrome without the hallmark cryptophthalmos.
  • Further research with larger cohorts is needed to establish genotype-phenotype correlations.