Evidence map›Paper›PMID 33783914›Full record

ArticleHuman mutation2021

Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.

Bryn D Webb, Anthony Evans, Thomas P Naidich, Lynne M Bird, Sumit Parikh, Meilin Fernandez Garcia, Lindsay B Henderson, Francisca Millan, Yue Si, Kristen J Brennand and 4 more

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Human mutation, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact, top 98% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. 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

14 authors at 5 institutions in 1 country.

Bryn D WebbDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.ORCID 0000-0001-6174-4677
Anthony EvansDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Thomas P NaidichDepartment of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Lynne M BirdDepartment of Pediatrics, University of California San Diego, Rady Children's Hospital, San Diego, California, USA.
Sumit ParikhNeurometabolism & Neurogenetics, Cleveland Clinic, Cleveland, Ohio, USA.
Meilin Fernandez GarciaDepartment of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Lindsay B HendersonGeneDx, Gaithersburg, Maryland, USA.
Francisca MillanGeneDx, Gaithersburg, Maryland, USA.
Yue SiGeneDx, Gaithersburg, Maryland, USA.
Kristen J BrennandDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Peter HungDepartment of Radiology, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Janet C RuckerDepartment of Neurology, New York University Grossman School of Medicine, New York, New York, USA.
Patricia G WheelerDivision of Genetics, Arnold Palmer Hospital, Orlando, Florida, USA.
Eric E SchadtDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
Icahn School of Medicine at Mount Sinai · USArnold Palmer Hospital for Children · USCleveland Clinic · USNew York University · USUniversity of California San Diego · US

Funding

Integrative Approach To Study Mitochondrial Aminoacyl-tRNA Synthetase DisordersK08HD086827 · NICHD · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI WEBB, BRYN D · 2016 to 2020
$791k
NICHD NIH HHS K08 HD086827
6 · The paper itself

Abstract

De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed in the developing nervous system, and mice homozygous for null alleles of Pou4f1 exhibit uncoordinated movements with newborns being unable to successfully right themselves to feed. Head magnetic resonance imaging of the four probands was reviewed and multiple abnormalities were noted, including significant cerebellar vermian atrophy and hypertrophic olivary degeneration in one proband. Transcriptional activation of the POU4F1 p.Gln306Arg protein was noted to be decreased when compared with wild type. These findings suggest that heterozygous, loss-of-function variants in POU4F1 are causative of a novel ataxia syndrome.

Indexed as

AdultAtaxiaChildChild, PreschoolExome SequencingFemaleHaploinsufficiencyHumansMagnetic Resonance ImagingMaleMuscle HypotoniaMutation, MissenseRetrospective StudiesSyndromeTranscription Factor Brn-3ATremorPOU4F1 protein, humanTranscription Factor Brn-3Aataxiaintention tremorparoxysmal tonic upgazePOU4F1

Identifiers

PMID33783914
PMCPMC8162891
OpenAlexW3146733696

What OpenQuestion holds

Textmetadata
LicenceTDM
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.