Evidence map›Paper›PMID 31923705›Full record

ArticleBone2020

Early-onset Paget's disease of bone in a Mexican family caused by a novel tandem duplication (77dup27) in TNFRSF11A that encodes RANK.

Sean J Iwamoto, Micol S Rothman, Shenghui Duan, Jonathan C Baker, Steven Mumm, Michael P Whyte

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

Article in Bone, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.6field-weighted citation impact, top 32% 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

7 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Update on the pathogenesis and genetics of Paget's disease of bone.Frontiers in cell and developmental biology · 2022
    Review
  5. Review
  6. Review
  7. Genetic disorders associated with the RANKL/OPG/RANK pathway.Journal of bone and mineral metabolism · 2021
    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

6 authors at 4 institutions in 1 country.

Sean J IwamotoDivision of Endocrinology, Metabolism & Diabetes, University of Colorado School of Medicine, Aurora, CO, USA; Division of Endocrinology, Rocky Mountain Regional VA Medical Center, VA Eastern Colorado Health Care System, Aurora, CO, USA. Electronic address: sean.iwamoto@cuanschutz.edu.
Micol S RothmanDivision of Endocrinology, Metabolism & Diabetes, University of Colorado School of Medicine, Aurora, CO, USA. Electronic address: micol.rothman@cuanschutz.edu.
Shenghui DuanDivision of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA. Electronic address: sduan@wustl.edu.
Jonathan C BakerMusculoskeletal Section, Mallinckrodt Institute of Radiology, Washington University School of Medicine, St. Louis, MO, USA. Electronic address: jonathancbaker@wustl.edu.
Steven MummDivision of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO, USA. Electronic address: smumm@wustl.edu.
Michael P WhyteDivision of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine at Barnes-Jewish Hospital, St. Louis, MO, USA; Center for Metabolic Bone Disease and Molecular Research, Shriners Hospitals for Children-St. Louis, St. Louis, MO, USA. Electronic address: mwhyte@shrinenet.org.
Barnes-Jewish Hospital · USMallinckrodt (United States) · USUniversity of Colorado Denver · USVA Eastern Colorado Health Care System · US

Funding

TRAINING PROGRAM IN DIABETES, ENDOCRINOLOGY &METABOLISMT32DK007446 · NIDDK · UNIVERSITY OF COLORADO DENVER · PI BESSESEN, DANIEL HOLLAND · 1986 to 2017
$5.6M
NIDDK NIH HHS T32 DK007446
6 · The paper itself

Abstract

Four heterozygous in-frame tandem duplications of different lengths in TNFRSF11A, the gene that encodes receptor activator of nuclear factor κB (RANK), constitutively activate RANK and lead to high turnover skeletal disease. Each duplication elongates the signal peptide of RANK. The 18-base pair (bp) duplication at position 84 (84dup18) causes familial expansile osteolysis (FEO), the 15-bp duplication at position 84 (84dup15) causes expansile skeletal hyperphosphatasia (ESH), the 12-bp duplication at position 90 (90dup12) causes panostotic expansile bone disease (PEBD), and the 27-bp duplication causes early-onset Paget's disease of bone (PDB2). The severity of the associated skeletal disease seems inversely related to the duplication's length. Additional 15- and 18-bp duplications of TNFRSF11A fit this pattern. Herein, we delineate the skeletal disease of a middle-aged man of Mexican descent who we found to harbor a novel 27-bp tandem duplication at position 77 (77dup27) of TNFRSF11A. His disorder shares features, particularly hand involvement, with the single Japanese (75dup27) and Chinese (78dup27) kindreds with PDB2 (PDB2

Indexed as

Fractures, CompressionOsteitis DeformansOsteolysisSpinal FracturesAdultHumansMaleMiddle AgedRANK LigandReceptor Activator of Nuclear Factor-kappa BRANK LigandReceptor Activator of Nuclear Factor-kappa BTNFRSF11A protein, humanBone markersBone turnoverDeafnessEarly Paget's disease of boneFracturingHIV infectionHypercalcemiaHyperphosphatasemiaNF-κBOsteoclastRANKRANKLTNFRSF11ATooth loss

Identifiers

PMID31923705
PMCPMC7179970
OpenAlexW2999256859

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.