Evidence map›Paper›PMID 31810438›Full record

ArticleBMC ophthalmology2019

A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.

Maria F Shurygina, Maria A Parker, Catie L Schlechter, Rui Chen, Yumei Li, Richard G Weleber, Paul Yang, Mark E Pennesi

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

Article in BMC ophthalmology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.9field-weighted citation impact, top 21% 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

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Alström syndrome with a novel mutation ofWorld journal of clinical cases · 2021
    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

8 authors at 3 institutions in 2 countries.

Maria F ShuryginaS. Fyodorov Eye Microsurgery Federal State Institution, 59A, Beskudnikovsky Blvd, Moscow, 127486, Russia.
Maria A ParkerCasey Eye Institute, Oregon Health & Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA.
Catie L SchlechterCasey Eye Institute, Oregon Health & Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA.
Rui ChenHuman Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Yumei LiHuman Genome Sequencing Center, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Richard G WeleberCasey Eye Institute, Oregon Health & Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA.
Paul YangCasey Eye Institute, Oregon Health & Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA.
Mark E PennesiCasey Eye Institute, Oregon Health & Science University, 3375 SW Terwilliger Blvd, Portland, OR, 97239, USA. pennesim@ohsu.edu.ORCID http://orcid.org/0000-0002-4943-6599
Oregon Health & Science University · USBaylor College of Medicine · USIntersectoral Research and Technology Complex Eye Microsurgery · RU

Funding

Proteomics CoreP30EY010572 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI TED S ACOTT · 1995 to 2026
$19.4M
VISION RESEARCH CENTERP30EY002520 · NEI · BAYLOR COLLEGE OF MEDICINE · PI Samuel M Wu · 1985 to 2026
$14.8M
GENETICS OF EARLY ONSET RETINAL DISEASESR01EY018571 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2008 to 2026
$7.2M
Molecular Basis of Human Visual System DisordersR01EY022356 · NEI · UNIVERSITY OF CALIFORNIA-IRVINE · PI RUI CHEN · 2012 to 2026
$6.1M
Neuroprotective Mechanisms of Inosine Monophosphate Dehydrogenase Inhibitors in Retinitis PigmentosaK08EY026650 · NEI · OREGON HEALTH & SCIENCE UNIVERSITY · PI YANG, PAUL · 2016 to 2020
$1.1M
High Throughput Genomic Sequencer at BCM Core FacilityS10OD023469 · OD · BAYLOR COLLEGE OF MEDICINE · PI CHEN, RUI · 2017 to 2017
$600k
NEI NIH HHS EY010572NEI NIH HHS K08 EY026650NEI NIH HHS P30 EY002520NEI NIH HHS P30 EY010572NEI NIH HHS R01 EY018571NEI NIH HHS R01 EY022356NIH HHS S10 OD023469Research to Prevent Blindness Unrestricted Grant
6 · The paper itself

Abstract

backgroundAlström syndrome (AS) is a rare monogenic disorder characterized by progressive multi-organ pathology including retinal degeneration, hearing impairment and type 2 diabetes. Here we present clinical features in two siblings diagnosed with Alström syndrome associated with two novel changes in ALMS1. CASE PRESENTATION: Two siblings originally diagnosed as having achromatopsia presented with mild light sensitivity, nonspecific otitis media, and mild developmental delay during the first decade of life with a relatively stable ocular appearance during second decade, late onset of nystagmus and dyschromatopsia (after 20 years) and preserved vision during the third decade of life. One sibling had late onset hearing loss and both siblings had symmetric high myopia, normal stature, and ptosis. Clinical findings revealed structural and functional tests consistent with a cone-rod dystrophy. Novel variants c.9894dupC (p.S3298 fs) and c.10769delC (p.T3590 fs) in ALMS1 gene were found.

conclusionsTwo North American siblings who presented with a mild clinical phenotype of Alström syndrome were found to have novel mutations in ALMS1. These two frame-shift mutations segregated with the disease phenotype lending evidence to their pathogenicity.

Indexed as

MutationAdultAlstrom SyndromeCell Cycle ProteinsHumansMaleRetinal DegenerationSiblingsYoung AdultALMS1 protein, humanCell Cycle ProteinsALMS1 geneAlström syndromeCase reportCone-rod dystrophy

Identifiers

PMID31810438
PMCPMC6898930
OpenAlexW2994136482

What OpenQuestion holds

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LicenceCC BY
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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.