Evidence map›Paper›PMID 41457110›Full record

ArticleMolecular genetics and genomics : MGG2025

The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

Marie Lorans, Kristian Alsbjerg Skipper, Trine Østergaard Nielsen, Simon Opstrup Drue, Christine Kroer Nielsen, Christian Vinberg Thorup, Sven Erik Nørholt, Lisbeth Marianne Thøstesen, Pernille Axél Gregersen

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In one paragraph

Article in Molecular genetics and genomics : MGG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Marie LoransDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, 8200, Denmark. marloa@rm.dk.ORCID http://orcid.org/0009-0009-0016-3516
Kristian Alsbjerg SkipperDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-3855-2025
Trine Østergaard NielsenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, 8200, Denmark.
Simon Opstrup DrueDepartment of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0000-0002-1401-6527
Christine Kroer NielsenDepartment of Otorhinolaryngology, Head and Neck Surgery, Clinic of Audiology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0009-0009-6467-7997
Christian Vinberg ThorupDepartment of Otorhinolaryngology, Head and Neck Surgery, Clinic of Audiology, Aarhus University Hospital, Aarhus, Denmark.ORCID http://orcid.org/0009-0002-5742-5678
Sven Erik NørholtDepartment of Oral and Maxillofacial Surgery, Aarhus University and University Hospital, Aarhus, Denmark.
Lisbeth Marianne ThøstesenDepartment of Pediatrics and Adolescent Medicine, Gødstrup Hospital, Herning, Denmark.ORCID http://orcid.org/0000-0003-3231-1260
Pernille Axél GregersenDepartment of Clinical Genetics, Aarhus University Hospital, Aarhus, 8200, Denmark.ORCID http://orcid.org/0000-0003-3424-0590

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of this study was to identify the genetic cause of Branchio-oto-renal (BOR) syndrome using whole genome sequencing (WGS) in a previously unsolved case. We describe a novel, deep intronic variant in EYA1 that segregates with BOR syndrome in three generations in a Danish family. According to the prediction algorithm, SpliceAI, the variant creates a cryptic splice donor site in intron 7, resulting in inclusion of a pseudo-exon. We functionally assessed the intronic variant using an in-vitro splicing assay confirming a spliceogenic effect. The abnormally spliced EYA1 transcript is expected to undergo nonsense mediated decay resulting in haploinsufficiency. In conclusion, we identified the genetic cause of BOR syndrome in the family. To the best of our knowledge, this is the first report of a causative deep intronic variant in BOR syndrome. Our results demonstrate the clinical utility of WGS in cases with highly specific phenotypes.

Indexed as

Branchio-Oto-Renal SyndromeIntracellular Signaling Peptides and ProteinsNuclear ProteinsProtein Tyrosine PhosphatasesHumansIntronsPedigreeWhole Genome SequencingEYA1 protein, humanIntracellular Signaling Peptides and ProteinsNuclear ProteinsProtein Tyrosine PhosphatasesBOR syndromeDeep intronic variantRarediseasesSplicingWhole genome sequencing

Identifiers

PMID41457110

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.