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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

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.

SUBMITTER: Wojcik MH

PROVIDER: S-EPMC6765408 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome.

Wojcik Monica H MH Thiele Katri K Grant Carly F CF Chao Katherine K Goodrich Julia J O'Donnell-Luria Anne A Lacro Ronald V RV Tan Wen-Hann WH Agrawal Pankaj B PB

The Journal of pediatrics 20190622

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. ...[more]

PMID: 31235381

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A novel pathogenic variant of <i>CEP164</i> in an infant with Senior-Loken syndrome.

Project description: Not available

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Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.

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