A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

Anthony Piscopo; Taylor Warner; Jaime Nagy; Vidya Nagrale; Aaron Stence; Natalya Guseva; John A. Bernat; Amy Calhoun

doi:10.1002/ajmg.a.63440

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A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

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A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature

Anthony Piscopo, Taylor Warner, Jaime Nagy, Vidya Nagrale, Aaron Stence, Natalya Guseva, John A. Bernat and Amy Calhoun

American journal of medical genetics. Part A, Vol.194(2), pp.368-373

02/2024

DOI: 10.1002/ajmg.a.63440

PMID: 37840436

Appears in UI Libraries Support Open Access

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Abstract

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder due to pathogenic variants in Fibrillin‐1 ( FBN1 ) affecting nearly one in every 10,000 individuals. We report a 16‐month‐old female with early‐onset MFS heterozygous for an 11.2 kb de novo duplication within the FBN1 gene. Tandem location of the duplication was further confirmed by optical genome mapping in addition to genetic sequencing and chromosomal microarray. This is the third reported case of a large multi‐exon duplication in FBN1 , and the only one confirmed to be in tandem. As the vast majority of pathogenic variants associated with MFS are point mutations, this expands the landscape of known FBN1 pathogenic variants and supports consistent use of genetic testing strategies that can detect large, indel‐type variants.

FBN1

Fibrillin-1

Marfan syndrome

optical genome mapping

UIOWA OA Agreement

Details

Title: Subtitle: A novel de novo intragenic duplication in FBN1 associated with early‐onset Marfan syndrome in a 16‐month‐old: A case report and review of the literature
Creators: Anthony Piscopo - University of Iowa
Taylor Warner - University of Iowa
Jaime Nagy - University of Iowa
Vidya Nagrale - University of Iowa Hospitals and Clinics
Aaron Stence - University of Iowa Hospitals and Clinics
Natalya Guseva - University of Iowa
John A. Bernat - University of Iowa
Amy Calhoun - University of Iowa
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part A, Vol.194(2), pp.368-373
DOI: 10.1002/ajmg.a.63440
PMID: 37840436
NLM abbreviation: Am J Med Genet A
ISSN: 1552-4825
eISSN: 1552-4833
Publisher: Wiley
Language: English
Electronic publication date: 10/15/2023
Date published: 02/2024
Academic Unit: Stead Family Department of Pediatrics; Pathology; Medical Genetics and Genomics; Neurosurgery
Record Identifier: 9984479659202771

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