Evidence map›Paper›PMID 33736665›Full record

ArticleOrphanet journal of rare diseases2021

EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum.

Ulrike Hüffmeier, Cornelia Kraus, Miriam S Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A Ahmed, Kristyn L Rawson, Eileen Barr, Hong Li, Ange-Line Bruel and 30 more

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

Article in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
1.2field-weighted citation impact, top 20% 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

9 citing papers in PubMed, 15 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

40 authors at 16 institutions in 6 countries.

Ulrike HüffmeierInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany. ulrike.hueffmeier@uk-erlangen.de.ORCID 0000-0001-6448-4671
Cornelia KrausInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Miriam S ReuterInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Steffen UebeInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Mary-Alice AbbottMedical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, MA, USA.
Syed A AhmedDepartment of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.
Kristyn L RawsonDepartment of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, Riverside, CA, USA.
Eileen BarrDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Hong LiDepartment of Human Genetics, Emory University School of Medicine, Atlanta, GA, 30322, USA.
Ange-Line BruelUMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.
Laurence FaivreUMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.
Frédéric Tran Mau-ThemUMR-Inserm 1231 GAD Team, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21000, Dijon, France.
Christina BottiDivision of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
Susan BrooksDivision of Medical Genetics, Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ, 08901, USA.
Kaitlyn BurnsSanford Health, Sioux Falls, SD, USA.
D Isum WardSanford Health, Sioux Falls, SD, USA.
Marina Dutra-ClarkeDivision of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Julian A Martinez-AgostoDivision of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Hane LeeDepartment of Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
Stanley F NelsonDivision of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA, 90095, USA.
UCLA California Center for Rare Disease
Pia ZacherInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Chiara KlöcknerInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Julie McGaughranGenetic Health Queensland, Royal Brisbane and Woman's Hospital, Brisbane, Australia.
Jürgen KohlhaseSynlab Human Genetics Freiburg, Freiburg, Germany.
Sarah SchuhmannInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Ellen MoranClinical Genetics, Hassenfeld Children's Hospital at NYU Langone, NYU Langone, Orthopedic Hospital, New York, NY, USA.
John PappasDivision of Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.
Annick Raas-RothschildSackler School of Medicine at Tel Aviv University, Tel Aviv, Israel.
Maria J Guillen SacotoGeneDx, Gaithersburg, MD, 20877, USA.
Lindsay B HendersonGeneDx, Gaithersburg, MD, 20877, USA.
Timothy Blake PalculictGeneDx, Gaithersburg, MD, 20877, USA.
Sureni V MullegamaGeneDx, Gaithersburg, MD, 20877, USA.
Houda Zghal ElloumiGeneDx, Gaithersburg, MD, 20877, USA.
Adi ReichGeneDx, Gaithersburg, MD, 20877, USA.
Samantha A Schrier VerganoDivision of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
Erica WahlDivision of Genetics, UBMD Pediatrics, Buffalo, NY, USA.
André ReisInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Christiane ZweierInstitute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054, Erlangen, Germany.
Friedrich-Alexander-Universität Erlangen-Nürnberg · DEUniversity of California, Los Angeles · USInserm · FREmory University · USKaiser Permanente Riverside Medical Center · USLeipzig University · DERutgers, The State University of New Jersey · USSanford Health · USBaystate Medical Center · USChildren's Hospital of The King's Daughters · USEpilepsiezentrum Kleinwachau Gemeinnützige · DENew York University Langone Orthopedic Hospital · USSynlab (Germany) · DETel Aviv University · ILThe University of Queensland · AUUniversity of Bern · CH

Funding

UCLA Clinical Translational Science InstituteUL1TR001881 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ARLEEN F. BROWN, ARASH NAEIM · 2016 to 2026
$118.1M
NCATS NIH HHS UL1 TR001881
6 · The paper itself

Abstract

backgroundAn identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual disability, epilepsy, behavioral problems and sensorineural hearing-loss. To refine the phenotypic and molecular spectrum of EIF3F-related neurodevelopmental disorder, we examined independent patients.

results21 patients were homozygous and one compound heterozygous for c.694T>G/p.(Phe232Val) in EIF3F. Haplotype analyses in 15 families suggested that c.694T>G/p.(Phe232Val) was a founder variant. All affected individuals had developmental delays including delayed speech development. About half of the affected individuals had behavioral problems, altered muscular tone, hearing loss, and short stature. Moreover, this study suggests that microcephaly, reduced sensitivity to pain, cleft lip/palate, gastrointestinal symptoms and ophthalmological symptoms are part of the phenotypic spectrum. Minor dysmorphic features were observed, although neither the individuals' facial nor general appearance were obviously distinctive. Symptoms in the compound heterozygous individual with an additional truncating variant were at the severe end of the spectrum in regard to motor milestones, speech delay, organic problems and pre- and postnatal growth of body and head, suggesting some genotype-phenotype correlation.

conclusionsOur study refines the phenotypic and expands the molecular spectrum of EIF3F-related syndromic neurodevelopmental disorder.

Indexed as

Cleft LipCleft PalateIntellectual DisabilityMicrocephalyNeurodevelopmental DisordersEukaryotic Initiation Factor-3HumansEIF3F protein, humanEukaryotic Initiation Factor-3Altered muscular toneBehavioral difficultiesDeafnessEIF3F geneNeurodevelopmental disorderShort stature

Identifiers

PMID33736665
PMCPMC7977188
OpenAlexW3137267241

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LicenceCC BY
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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.