Evidence map›Paper›PMID 32048457›Full record

ArticleMolecular genetics & genomic medicine2020

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency.

Orna Staretz-Chacham, Lars Schlotawa, Ohad Wormser, Inbal Golan-Tripto, Ohad S Birk, Carlos R Ferreira, Thomas Dierks, Karthikeyan Radhakrishnan

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PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 37% 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

2 citing papers in PubMed, 4 citations in OpenAlex.

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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 5 institutions in 3 countries.

Orna Staretz-ChachamMetabolic Clinic, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.ORCID 0000-0001-6975-4909
Lars SchlotawaDepartment of Paediatrics and Adolescent Medicine, University Medical Center, Goettingen, Germany.
Ohad WormserThe Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Inbal Golan-TriptoDivision of Pediatrics, Soroka University Medical Center, Ben Gurion University, Beer Sheva, Israel.
Ohad S BirkThe Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
Carlos R FerreiraMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Thomas DierksBiochemistry I, Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.
Karthikeyan RadhakrishnanBiochemistry I, Faculty of Chemistry, Bielefeld University, Bielefeld, Germany.ORCID 0000-0003-1731-7410
Ben-Gurion University of the Negev · ILBielefeld University · DEGerman Center for Pediatric and Adolescent Rheumatology · DENational Institutes of Health · USSoroka Medical Center · IL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMultiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation. Impeded by a lack of natural history, knowledge gained from individual case studies forms the source for a reliable diagnosis and consultation of patients and parents.

methodsWe collected clinical records as well as genetic and metabolic test results from two MSD patients. The functional properties of a novel SUMF1 variant were analyzed after expression in a cell culture model.

resultsWe report on two MSD patients-the first neonatal type reported in Israel-both presenting with this most severe manifestation of MSD. Our patients showed uniform clinical symptoms with persistent pulmonary hypertension, hypotonia, and dysmorphism at birth. Both patients were homozygous for the same novel SUMF1 mutation (c.1043C>T, p.A348V). Functional analysis revealed that the SUMF1-encoded variant of formylglycine-generating enzyme is highly instable and lacks catalytic function.

conclusionThe obtained results confirm genotype-phenotype correlation in MSD, expand the spectrum of clinical presentation and are relevant for diagnosis including the extremely rare neonatal severe type of MSD.

Indexed as

Mutation, MissensePhenotypeCell Line, TumorChild, PreschoolEnzyme StabilityHomozygoteHumansInfantMaleMultiple Sulfatase Deficiency DiseaseOxidoreductases Acting on Sulfur Group DonorsOxidoreductases Acting on Sulfur Group DonorsSUMF1 protein, humandeafnessdevelopmental delaydysmorphismformylglycine-generating enzymehypotonialysosomal storage disordersMultiple sulfatase deficiencypersistent pulmonary hypertension of the newbornsulfatasesSUMF1

Identifiers

PMID32048457
PMCPMC7507568
OpenAlexW3006440366

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Registered trials

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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.