Evidence map›Paper›PMID 32355788›Full record

ArticleAnnals of translational medicine2020

X-linked dominant protoporphyria in a Chinese pedigree reveals a four-based deletion of

Tao Wang, Yongwei Wang, Qi Dong, Chenchen Xu, Xiping Zhou, Yunshu Ouyang, Yaping Liu, Jonathan J Lee, Nina Hu, Kevin Wang and 5 more

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

Article in Annals of translational medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.3field-weighted citation impact, top 47% 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

2 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. 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

15 authors at 7 institutions in 3 countries.

Tao WangDepartment of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Yongwei WangCAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, China.
Qi DongDepartment of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Chenchen XuDepartment of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Xiping ZhouDepartment of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Yunshu OuyangDepartment of Ultrasound Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Yaping LiuDepartment of Medical Genetics and National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, China.
Jonathan J LeeProgram in Dermatopathology, Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.
Nina HuProgram in Dermatopathology, Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.
Kevin WangProgram in Dermatopathology, Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.
Tanja Prunk ZdravkovicDermatovenerology Department, Celje General and Teaching Hospital, Oblakova 5, 3000 Celje, Faculty of Medicine, University of Maribor, Maribor, Slovenia.
Jun ShenDepartment of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Guangjun NieCAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety, CAS Center for Excellence in Nanoscience, National Center for Nanoscience and Technology, Beijing 100190, China.
Christine G LianProgram in Dermatopathology, Department of Pathology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA, USA.
Yuehua LiuDepartment of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.
Chinese Academy of Medical Sciences & Peking Union Medical College · CNHarvard University · USNational Center for Nanoscience and Technology · CNPeking Union Medical College Hospital · CNSUNY Upstate Medical University · USUniversity of Maribor · SIUniversity of Pittsburgh Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundX-linked dominant protoporphyria (XLDPP) is a rare, hereditary disorder that leads to hepatobiliary and hematologic abnormalities including increased erythrocyte protoporphyrin, cutaneous photosensitivity, and decreased iron stores that is caused by a pathogenic mutation of

methodsThis study aimed to confirm the existence of XLDPP in a Chinese pedigree. We observed and described the dermatoscopic findings of this disorder under dermoscopy, and assessed photo damage in XLDPP patients using the Fotofinder system and very high frequency (VHF) skin ultrasonic system. We performed next generation sequencing and Sanger sequencing to detect and confirm genetic variants in DNA samples from the XLDPP family. Moreover, we monitored the hepatobiliary function as well as hematologic changes in related family members.

resultsAs compared to unaffected control subjects, patients exhibited evidence of severe cutaneous photodamage, causing photoaging, an increase in the size of the gallbladder, increased levels of protoporphyrin in red blood cells, an increase in blood levels of uroporphyrin and hematoporphyrin, and iron deficiency.

conclusionsXLDPP was validated by the identification of a four-base-pair deletion (c.1706_1709delAGTG, p.E569fs) in

Indexed as

Aminolevulinic acid synthetase 2dominantporphyriaprotoporphyriaX-linked

Identifiers

PMID32355788
PMCPMC7186625
OpenAlexW3011220769

What OpenQuestion holds

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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.