Evidence map›Paper›PMID 32066420›Full record

ArticleBMC medical genetics2020

Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K Poplawski, Hugh Young Rienhoff, Andreas W Schreiber, Christopher N Hahn and 2 more

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

Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 30% 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

1 citing paper in PubMed, 3 citations in OpenAlex.

  1. Article
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

12 authors at 3 institutions in 1 country.

Parvathy VenugopalGenetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Lucia GagliardiGenetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Cecily ForsythJarrett Street Specialist Centre, Gosford, Australia.
Jinghua FengAustralian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, PO Box 14, Rundle Mall, Adelaide, South Australia, 5000, Australia.
Kerry PhillipsAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia.
Milena BabicGenetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Nicola K PoplawskiAdult Genetics Unit, Royal Adelaide Hospital, Adelaide, Australia.
Hugh Young RienhoffImago BioSciences, Inc., San Francisco, California, USA.
Andreas W SchreiberCentre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, Australia.
Christopher N HahnGenetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Anna L BrownGenetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
Hamish S ScottGenetics and Molecular Pathology, SA Pathology, Adelaide, Australia. hamish.scott@sa.gov.au.ORCID 0000-0002-5813-631X
South Australia Pathology · AURoyal Adelaide Hospital · AUGosford Hospital · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundWe report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity.

methodsWe performed whole exome sequencing to identify the causative variants. Sanger sequencing was used to perform segregation analyses on remaining family members.

resultsWe identified and classified a pathogenic GFI1 variant and a likely pathogenic variant in MYO6 which together explain the complex phenotypes seen in this family.

conclusionsWe present a case illustrating the benefits of a broad screening approach that allows identification of oligogenic determinants of complex human phenotypes which may have been missed if the screening was limited to a targeted gene panel with the assumption of a syndromic disorder. This is important for correct genetic diagnosis of families and disentangling the range and severity of phenotypes associated with high impact variants.

Indexed as

AdultAgedCongenital Bone Marrow Failure SyndromesDNA-Binding ProteinsExomeExome SequencingFemaleGenetic Diseases, InbornHearing Loss, SensorineuralHumansMaleMiddle AgedMutationMyosin Heavy ChainsNeutropeniaPedigreeDNA-Binding ProteinsGFI1 protein, humanMyosin Heavy Chainsmyosin VITranscription FactorsCongenital neutropeniaHearing lossLeukemia predispositionNeutropeniaPolygenic inheritance

Identifiers

PMID32066420
PMCPMC7026993
OpenAlexW3011093274

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.