Evidence map›Paper›PMID 26299366›Full record

ArticleAmerican journal of human genetics2015

Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.

Akemi J Tanaka, Megan T Cho, Francisca Millan, Jane Juusola, Kyle Retterer, Charuta Joshi, Dmitriy Niyazov, Adolfo Garnica, Edward Gratz, Matthew Deardorff and 13 more

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

Article in American journal of human genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 101 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
101citing papers in PubMed, 1 pooled it
10.8field-weighted citation impact, top 1% 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

101 citing papers in PubMed, 1 synthesis or guideline pooled it, 158 citations in OpenAlex.

  1. Pooled it
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  15. Ribosome biogenesis and function in development and disease.Development (Cambridge, England) · 2023
    Review
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41 more citing papers are in PubMed but not listed here.

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

23 authors at 8 institutions in 2 countries.

Akemi J TanakaDepartment of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA.
Megan T ChoGeneDx, Gaithersburg, MD 20877, USA.
Francisca MillanGeneDx, Gaithersburg, MD 20877, USA.
Jane JuusolaGeneDx, Gaithersburg, MD 20877, USA.
Kyle RettererGeneDx, Gaithersburg, MD 20877, USA.
Charuta JoshiDepartments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
Dmitriy NiyazovDepartment of Pediatrics, Division of Medical Genetics, Ochsner Health System, New Orleans, LA 70121, USA.
Adolfo GarnicaArkansas Children's Hospital, Little Rock, AR 72202, USA.
Edward GratzChild Neurology, Gratz & Shafrir, M.D., Baltimore, MD 21215, USA.
Matthew DeardorffDepartment of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Alisha WilkinsDepartment of Pediatrics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Xilma Ortiz-GonzalezDepartments of Pediatrics and Neurology, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.
Katherine MathewsDepartments of Pediatrics and Neurology, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
Karin PanzerDepartment of Pediatrics, University of Iowa Children's Hospital, Iowa City, IA 52242, USA.
Eva BrilstraDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
Koen L I van GassenDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
Catharina M L Volker-TouwDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
Ellen van BinsbergenDepartment of Medical Genetics, University Medical Center Utrecht, Utrecht 3584, the Netherlands.
Nara SobreiraMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
Ada HamoshMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA.
Dianalee McKnightGeneDx, Gaithersburg, MD 20877, USA.
Kristin G MonaghanGeneDx, Gaithersburg, MD 20877, USA.
Wendy K ChungDepartment of Pediatrics, Columbia University Medical Center, New York, NY 10032, USA; Department of Medicine, Columbia University Medical Center, New York, NY 10032, USA. Electronic address: wkc15@columbia.edu.
University Medical Center Utrecht · NLChildren's Hospital of Philadelphia · USUniversity of Iowa Stead Family Children’s Hospital · USColumbia University Irving Medical Center · USJohns Hopkins University · USArkansas Children's Hospital · USGratz College · USOchsner Health System · US

Funding

Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6M
NHGRI NIH HHS 1U54HG006542NHGRI NIH HHS U54 HG006542
6 · The paper itself

Abstract

Using whole-exome sequencing, we have identified in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5). SPATA5 encodes a ubiquitously expressed member of the ATPase associated with diverse activities (AAA) protein family and is involved in mitochondrial morphogenesis during early spermatogenesis. It might also play a role in post-translational modification during cell differentiation in neuronal development. Mutations in SPATA5 might affect brain development and function, resulting in microcephaly, developmental delay, and intellectual disability.

Indexed as

Abnormalities, MultipleAmino Acid SequenceATPases Associated with Diverse Cellular ActivitiesBase SequenceExomeFemaleGene FrequencyGenes, RecessiveHearing LossHomeodomain ProteinsHumansIntellectual DisabilityMaleMicrocephalyMolecular Sequence DataMutationATPases Associated with Diverse Cellular ActivitiesHomeodomain ProteinsSPATA5 protein, human

Identifiers

PMID26299366
PMCPMC4564988
OpenAlexW1573952075

What OpenQuestion holds

Textmetadata
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.