Evidence map›Paper›PMID 34499417›Full record

ArticleMolecular genetics & genomic medicine2021

Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathy.

Jotte Rodrigues Bento, Candice Feben, Marlies Kempers, Maartje van Rij, Mallory Woiski, Koenraad Devriendt, Luc De Catte, Marcella Baldewijns, Maaike Alaerts, Josephina Meester and 3 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. 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

13 authors.

Jotte Rodrigues BentoCentre of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.ORCID 0000-0003-4908-931X
Candice FebenDivision of Human Genetics, National Health Laboratory Service & The School of Pathology, University of the Witwatersrand, Johannesburg-Braamfontein, South Africa.
Marlies KempersDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Maartje van RijDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Mallory WoiskiDepartment of Gynaecology and Obstetrics, Radboud University Medical Center, Nijmegen, The Netherlands.
Koenraad DevriendtDepartment of Human Genetics, Catholic University of Leuven, Leuven, Belgium.
Luc De CatteDepartment of Gynaecology and Obstetrics, Catholic University of Leuven, Leuven, Belgium.
Marcella BaldewijnsDepartment of Gynaecology and Obstetrics, Catholic University of Leuven, Leuven, Belgium.
Maaike AlaertsCentre of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Josephina MeesterCentre of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Aline VerstraetenCentre of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.
Willy HendsonDepartment of Paediatrics, Rahima Moosa Mother and Child Hospital & The University of the Witwatersrand, Johannesburg-Braamfontein, South Africa.
Bart LoeysCentre of Medical Genetics, Antwerp University Hospital, University of Antwerp, Antwerp, Belgium.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundKCNMA1 mutations have recently been associated with a wide range of dysmorphological, gastro-intestinal, cardiovascular, and neurological manifestations.

methodsWhole exome sequencing was performed in order to identify the underlying pathogenic mutation in two cases presenting with diverse phenotypical manifestations that did not fit into well-known clinical entities.

resultsIn an 8-year-old boy presenting with severe aortic dilatation, facial dysmorphism, and overgrowth at birth a de novo p.Gly375Arg KCNMA1 mutation was identified which has been reported previously in association with gingival hypertrophy, aortic dilatation, and developmental delay. Additionally, in a 30-week-old fetus with severe growth retardation and duodenal atresia a de novo p.Pro805Leu KCNMA1 mutation was identified. The latter has also been reported before in a boy with severe neurological manifestations, including speech delay, developmental delay, and cerebellar dysfunction.

conclusionThe current report presents the first antenatal presentation of a pathogenic KCNMA1 mutation and confirms the specific association of the p.Gly375Arg variant with early onset aortic root dilatation, gingival hypertrophy, and neonatal overgrowth.

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseasePhenotypeAdolescentAllelesAmino Acid SubstitutionChannelopathiesChildChild, PreschoolExome SequencingHumansInfantLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMaleMutationNeuroimagingKCNMA1 protein, humanLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitschannelopathyKCNMA1 loss-of-functionLiang-Wang syndromethoracic aortic aneurysm

Identifiers

PMID34499417
PMCPMC8580096

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.