Evidence map›Paper›PMID 38296633›Full record

ArticleJournal of medical genetics2024

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.

Kerry A Miller, David A Cruz Walma, Daniel M Pinkas, Rebecca S Tooze, Joshua C Bufton, William Richardson, Charlotte E Manning, Alice E Hunt, Julien Cros, Verity Hartill and 8 more

Open access · hybridAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
2.3field-weighted citation impact, top 12% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

5 citing papers in PubMed, 10 citations in OpenAlex.

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  4. Review
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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

18 authors at 6 institutions in 3 countries.

Kerry A Miller *MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
David A Cruz Walma *Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Daniel M PinkasCentre for Medicines Discovery, University of Oxford, Oxford, UK.
Rebecca S ToozeMRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Joshua C BuftonCentre for Medicines Discovery, University of Oxford, Oxford, UK.
William RichardsonCentre for Medicines Discovery, University of Oxford, Oxford, UK.
Charlotte E ManningCentre for Medicines Discovery, University of Oxford, Oxford, UK.
Alice E HuntCentre for Medicines Discovery, University of Oxford, Oxford, UK.
Julien CrosCentre for Medicines Discovery, University of Oxford, Oxford, UK.
Verity HartillLeeds Institute of Medical Research, University of Leeds, Leeds, UK.
Michael J ParkerSheffield Clinical Genomics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
Simon J McGowanMRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Stephen R F TwiggMRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Rod ChalkCentre for Medicines Discovery, University of Oxford, Oxford, UK.
David StauntonDepartment of Biochemistry, University of Oxford, Oxford, UK.
David JohnsonCraniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Andrew O M WilkieMRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.ORCID 0000-0002-2972-5481
Alex N BullockCentre for Medicines Discovery, University of Oxford, Oxford, UK alex.bullock@cmd.ox.ac.uk.ORCID 0000-0001-6757-0436
University of Oxford · GBNational Institutes of Health · USOxford University Hospitals NHS Trust · GBSheffield Children's NHS Foundation Trust · GBUniversidad Loyola Andalucía · ESUniversity of Leeds · GB

Funding

Medical Research Council MC_PC_21044Medical Research Council MC_PC_21047Wellcome Trust
6 · The paper itself

Abstract

introduction

methodsExome sequencing was performed on a two-generation family affected by a distinctive phenotype comprising a lipomatous frontonasal malformation, anosmia, cutis aplasia of the scalp and/or sparse hair, and congenital heart disease. Identification of a de novo missense substitution within

resultsA heterozygous c.310G>C variant encoding p.(Asp104His) within the BTB domain of

conclusionBTB domain substitutions in KCTD1 and KCTD15 cause clinically overlapping phenotypes involving craniofacial abnormalities and cutis aplasia. The structural analyses demonstrate that missense substitutions act through a dominant negative mechanism by disrupting the higher order structure of the KCTD15 protein complex.

Indexed as

BTB-POZ DomainCraniofacial AbnormalitiesFaceAbnormalities, MultipleCo-Repressor ProteinsEctodermal DysplasiaHumansMutation, MissenseSyndromeCo-Repressor ProteinsKCTD1 protein, humanCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesExome SequencingMutation, MissenseStructural Homology, Protein

Identifiers

PMID38296633
PMCPMC11041601
OpenAlexW4391382227

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.