Evidence map›Paper›PMID 35224839›Full record

ArticleAmerican journal of medical genetics. Part A2022

De novo loss-of-function variant in PTDSS1 is associated with developmental delay.

Sara Gracie, Nivedita Sengupta, Carlos Ferreira, Joshua Pemberton, Ilse Anderson, Xin Wang, Lindsay Rhodes, Kathleen Brown, Tamas Balla, Austin Larson

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

Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.8field-weighted citation impact, top 34% 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

4 citing papers in PubMed, 7 citations in OpenAlex.

  1. Pss knockdown in the midgut causes growth retardation in Drosophila similar to that in human LMHD.Developmental dynamics : an official publication of the American Association of Anatomists · 2026
    Article
  2. Article
  3. Review
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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

10 authors at 3 institutions in 1 country.

Sara GracieDepartment of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Nivedita SenguptaSection on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Carlos FerreiraMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Joshua PembertonSection on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Ilse AndersonUniversity of Tennessee Graduate School of Medicine, Knoxville, Tennessee, USA.
Xin WangGeneDx, Gaithersburg, Maryland, USA.
Lindsay RhodesGeneDx, Gaithersburg, Maryland, USA.
Kathleen BrownDepartment of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.
Tamas BallaSection on Molecular Signal Transduction, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Austin LarsonDepartment of Pediatrics, Section of Genetics and Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, Colorado, USA.ORCID 0000-0002-2079-6929
National Institutes of Health · USChildren's Hospital Colorado · USUniversity of Tennessee at Knoxville · US

Funding

PHOSPHOINOSITIDE-CALCIUM SIGNALING IN CELL REGULATIONZ01HD000196 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI BALLA, TAMAS · 1998 to 2008
$1.9M
Intramural NIH HHS Z01 HD000196
6 · The paper itself

Abstract

Heterozygous de novo missense pathogenic variants in PTDSS1 that result in gain-of-function of phosphatidylserine synthase 1 are associated with Lenz-Majewski hyperostotic dwarfism (LMHD). We identified the novel heterozygous de novo variant p.(Leu137Phe) in PTDSS1 in a child with mild-to-moderate developmental delay. Skeletal survey revealed no evidence of LMHD in this patient. Functional assessment of the p.Leu137Phe variant was performed by overexpressing the mutant protein into HEK293 cells. Following C

Indexed as

Abnormalities, MultipleBone Diseases, DevelopmentalIntellectual DisabilityNeurodevelopmental DisordersHEK293 CellsHumansPhenotypeautism spectrum disorderdevelopmental delayphosphatidylserinePTDSS1

Identifiers

PMID35224839
PMCPMC9179020
OpenAlexW4214530769

What OpenQuestion holds

Textmetadata
LicenceTDM
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.