Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.

Journal of human genetics - 1 Aug 2026

Takagi Toru, Miyamoto Sachiko, Shimizu Kenji, Tanaka Yasuhiko, Matsubayashi Tomoko, Masunaga Yohei, Saitsu Hirotomo

Abstract excerpt

Transcriptome analysis can improve the diagnostic yield for neurodevelopmental disorders. We applied RNA-seq using urine-derived cells (UDCs) to a family with two affected brothers with a muscular dystrophy-dystroglycanopathy and dilated cardiomyopathy. Exome sequencing identified a maternally inherited heterozygous B3GALNT2 splice-site variant (NM_152490.5:c.261-2A>G) but no second pathogenic allele. UDCs...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles
Share to Cardiomyopathy, Dilated

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Gene Expression Profiling

Share to Muscular Dystrophies

Share to N-Acetylgalactosaminyltransferases

Share to Pedigree

Share to Siblings

Source

Identifiers

PMID: 41876776
DOI: 10.1038/s10038-026-01472-z

Genes

B3GALNT2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.PMID 41876776Read ↗

RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variantsSemantic proximity Read ↗

Blood-based RNA-Seq of 5412 individuals with rare disease identifies new candidate diagnoses in the National Genomic Research LibrarySemantic proximity Read ↗

Clinical validation of RNA sequencing for Mendelian disorder diagnosticsSemantic proximity Read ↗

Long-read RNA sequencing improves isoform and splicing outlier detection in whole blood from rare disease triosSemantic proximity Read ↗

Translating transcriptomics analysis into diagnostic workflows: clinical variant identification and interpretation in hypothesis-driven and hypothesis-free approaches.Semantic proximity Read ↗

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants.Semantic proximity Read ↗

Impact of genome build on RNA-seq interpretation and diagnosticsSemantic proximity Read ↗

Standardized transcriptome analysis improves rare disease diagnosis in the pan-European Solve-RD consortiumSemantic proximity Read ↗

Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesSemantic proximity Read ↗

Stratified evaluation of blood RNA sequencing in a rare disease cohortSemantic proximity Read ↗

Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesSemantic proximity Read ↗

Detection of aberrant events in RNA sequencing dataSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.