Evidence map›Paper›PMID 33960148›Full record

ArticleMolecular genetics & genomic medicine2021

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Beattie R H Sturrock, Ellen F Macnamara, Peter McGuire, Shannon Kruk, Ivan Yang, Jennifer Murphy, Undiagnosed Diseases Network, Cyndi J Tifft, Eliza Gordon-Lipkin

Registry-linked trialOpen access · goldAbstract 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. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 45% 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.

NCT02450851 recruitingnot on this map

Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network

TypeobservationalSponsorNational Human Genome Research Institute (NHGRI)Ran2015 to 2028Enrolled20,000ConditionsGenetic Disease
3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Review
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 at 2 institutions in 2 countries.

Beattie R H SturrockNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.
Ellen F MacnamaraNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.ORCID 0000-0002-9418-3287
Peter McGuireMetabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Shannon KrukMetabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Ivan YangMetabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
Jennifer MurphyNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.ORCID 0000-0003-1586-0890
Undiagnosed Diseases NetworkCommon Fund, Office of the Director, NIH, Bethesda, MD, USA.
Cyndi J TifftNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH, Bethesda, MD, USA.
Eliza Gordon-LipkinMetabolism, Infection and Immunity Section, National Human Genome Research Institute, NIH, Bethesda, MD, USA.
National Institutes of Health · USNational Human Genome Research Institute · US

Funding

Metabolism, infection and immunity in inborn errors of mitochondrial metabolismZIAHG200381 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MCGUIRE, PETER · 2012 to 2025
$21.7M
6 · The paper itself

Abstract

backgroundComplex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma-pheochromocytomas (PGL/PCC), and gastrointestinal stromal tumors). Deleterious variants of SDHA are most frequently associated with Leigh and Leigh-like syndromes. METHODS AND

resultsHere, we describe a case of a 9-year-old boy with tremor, nystagmus, hypotonia, developmental delay, significant ataxia, and progressive cerebellar atrophy. He was found to have biallelic variants in SDHA, a known pathogenic variant (c.91C>T (p.R31*)), and a variant of unknown significance (c.454G>A (p.E152K)). Deficient activity of complexes II and III was detected in fibroblasts from the patient consistent with a diagnosis of a respiratory chain disorder.

conclusionWe, therefore, consider whether c.454G>A (p.E152K) is, indeed, a pathogenic variant, and what implications it has for family members who carry the same variant.

Indexed as

Cells, CulturedCerebellar AtaxiaChildElectron Transport Complex IIElectron Transport Complex IIIFibroblastsHumansMaleMetabolism, Inborn ErrorsMitochondrial DiseasesMutationElectron Transport Complex IIElectron Transport Complex IIISDHA protein, humancerebellar atrophycomplex IImitochondrial diseasenovel mutationSHDA

Identifiers

PMID33960148
PMCPMC8222855
OpenAlexW3157104678

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

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.