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Article

Reanalysis of RNA sequencing data ends diagnostic odyssey and expands the phenotypic spectrum of congenital titinopathy.

American journal of medical genetics. Part A - 1 Nov 2024

McNamee Lucy, Schoch Kelly, Huang Alden, Lee Hane, Wang Lee-Kai, Smith Edward C, Lark Robert K, Buckley Anne F, Jobanputra Vaidehi, Nelson Stanley F, Shashi Vandana

Abstract excerpt

Although next-generation sequencing has enabled diagnoses for many patients with Mendelian disorders, the majority remain undiagnosed. Here, we present a sibling pair who were clinically diagnosed with Escobar syndrome, however targeted gene testing was negative. Exome sequencing (ES), and later genome sequencing (GS), revealed compound heterozygous TTN variants in both siblings, a maternally inherited frameshift...

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Identifiers

PMID: 38924341
DOI: 10.1002/ajmg.a.63798
PMCID: PMC11934095

Genes

TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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