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Article

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.

Journal of human genetics - 1 Jul 2022

Hiraide Takuya, Shimizu Kenji, Miyamoto Sachiko, Aoto Kazushi, Nakashima Mitsuko, Yamaguchi Tomomi, Kosho Tomoki, Ogata Tsutomu, Saitsu Hirotomo

Abstract excerpt

Exome sequencing and panel testing have improved diagnostic yield in genetic analysis by comprehensively detecting pathogenic variants in exonic regions. However, it is important to identify non-exonic pathogenic variants to further improve diagnostic yield. Here, we present a female proband and her father who is diagnosed with Marfan syndrome, a systemic connective tissue disorder caused by pathogenic variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35067677
DOI: 10.1038/s10038-022-01016-1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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