Evidence map›Paper›PMID 35107211›Full record

ArticleAmerican journal of medical genetics. Part A2022

Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene.

Faith Pangilinan, David Watkins, David Bernard, Yue Chen, Ningzheng Dong, Qingyu Wu, Hatice Ozel-Abaan, Manjit Kaur, Michele Caggana, Mark Morrissey and 10 more

Abstract 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
–field-weighted citation impact
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.

  1. Identification ofGenes · 2026
    Article
  2. Article
  3. Vitamin BInternational journal of molecular sciences · 2024
    Review
  4. Review
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

20 authors.

Faith PangilinanGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
David WatkinsDepartment of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
David BernardGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Yue ChenCyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.
Ningzheng DongCyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.
Qingyu WuCyrus Tang Hematology Center, Collaborative Innovation Center of Hematology, State Key Laboratory of Radiation Medicine and Prevention, Soochow University, Suzhou, China.
Hatice Ozel-AbaanGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Manjit KaurGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Michele CagganaDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Mark MorrisseyDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Marilyn L BrowneBirth Defects Registry, New York State Department of Health, Albany, New York and University at Albany School of Public Health, Rensselaer, New York, USA.
James L MillsEpidemiology Branch, Division of Intramural Population Health Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
Carol Van RyzinOrganic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Oleg ShchelochkovOrganic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Jennifer SloanOrganic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Charles P VendittiOrganic Acid Research Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.
Kyriakie SarafoglouDepartment of Pediatrics, University of Minnesota Medical School, Minneapolis, Minnesota, USA.
David S RosenblattDepartment of Human Genetics, McGill University and Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada.
Denise M KayDivision of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA.
Lawrence C BrodyGenetics and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Maryland, USA.ORCID 0000-0001-9435-3592

Funding

Investigations of Methylmalonic Acidemia and Related DisordersZIAHG200318 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI VENDITTI, CHARLES P · 2009 to 2025
$29.7M
The contribution folate and vitamin B12 genes to disease.ZIAHG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2009 to 2025
$17.6M
Genetic Factors in Birth DefectsZIAHD008792 · NICHD · EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH & HUMAN DEVELOPMENT · PI MILLS, JAMES · 2009 to 2023
$5.0M
The genetics of folate and vitamin B12 metabolism relateZ01HG000167 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BRODY, LAWRENCE C · 2000 to 2008
$4.0M
Canadian Institutes for Health Research 14661Intramural NIH HHS Z01 HG000167NICHD NIH HHS N01 DK073431
6 · The paper itself

Abstract

The biological and clinical significance of the p.E88del variant in the transcobalamin receptor, CD320, is unknown. This allele is annotated in ClinVar as likely benign, pathogenic, and of uncertain significance. To determine functional consequence and clinical relevance of this allele, we employed cell culture and genetic association studies. Fibroblasts from 16 CD320 p.E88del homozygotes exhibited reduced binding and uptake of cobalamin. Complete ascertainment of newborns with transiently elevated C3 (propionylcarnitine) in New York State demonstrated that homozygosity for CD320 p.E88del was over-represented (7/348, p < 6 × 10

Indexed as

Receptors, Cell SurfaceTranscobalaminsAntigens, CDGenetic Association StudiesHumansInfantInfant, NewbornVitamin B 12Antigens, CDCD320 protein, humanReceptors, Cell Surfacetranscobalamin receptorTranscobalaminsVitamin B 12C3-acylcarnitineCD320cobalaminnewborn screeningtranscobalamin receptortranscobalamin receptor deficiency

Identifiers

PMID35107211
PMCPMC8923979

What OpenQuestion holds

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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.