Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31235381.
- Also identified by DOI 10.1016/j.jpeds.2019.05.029 and PMC identifier 6765408.
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Abstract
We describe an infant with a phenotype typical of early onset Marfan syndrome whose genetic evaluation, including Sanger sequencing and deletion/duplication testing of FBN1 and exome sequencing, was negative. Ultimately, genome sequencing revealed a deletion missed on prior testing, demonstrating the unique utility of genome sequencing for molecular genetic diagnosis.
Medical subject headings
- Fibrillin-1
- Marfan Syndrome
- Sequence Analysis, DNA