Evidence map›Paper›PMID 38928066›Full record

ArticleInternational journal of molecular sciences2024

Homozygosity for a Rare

Piranit Kantaputra, Teerada Daroontum, Kantapong Kitiyamas, Panat Piyakhunakorn, Katsushige Kawasaki, Achara Sathienkijkanchai, Pornswan Wasant, Nithiwat Vatanavicharn, Thippawan Yasanga, Massupa Kaewgahya and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Piranit KantaputraCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-9841-0881
Teerada DaroontumDepartment of Pathology, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.ORCID 0000-0001-5968-218X
Kantapong KitiyamasCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Panat PiyakhunakornPanare Hospital, Dental Public Health Division, Panare District, Surat Thani 94130, Thailand.
Katsushige KawasakiDivision of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata 950-2181, Japan.
Achara SathienkijkanchaiDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 73170, Thailand.
Pornswan WasantDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 73170, Thailand.
Nithiwat VatanavicharnDivision of Medical Genetics, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 73170, Thailand.ORCID 0000-0003-3224-8070
Thippawan YasangaMedical Science Research Equipment Center, Research Administration Section, Faculty of Medicine, Chiang Mai University, Chiang Mai 50200, Thailand.
Massupa KaewgahyaCenter of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.
Sissades TongsimaNational Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathum Thani 12120, Thailand.
Timothy C CoxDepartments of Oral & Craniofacial Sciences, School of Dentistry, and Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.ORCID 0000-0001-8015-5528
Stefan T AroldBiological and Environmental Science and Engineering Division, Computational Bioscience Research Center, King Abdullah University of Science and Technology (KAUST), Thuwal 23955-6900, Saudi Arabia.ORCID 0000-0001-5278-0668
Atsushi OhazamaDivision of Oral Anatomy, Faculty of Dentistry & Graduate School of Medical and Dental Sciences, Niigata University, Niigata 950-2181, Japan.
Chumpol NgamphiwNational Biobank of Thailand, National Center for Genetic Engineering and Biotechnology (BIOTEC), Pathum Thani 12120, Thailand.ORCID 0000-0002-8581-397X

Funding

Chiang Mai University TGCMU2566P011/2566Health System Research Institute 64-123King Abdullah University of Science and Technology FCC/1/1976-33Office of Sponsored Research REI/1/4446-01Stowers Family Endowment for dental and musculoskeletal research NA
6 · The paper itself

Abstract

Congenital insensitivity to pain is a rare human condition in which affected individuals do not experience pain throughout their lives. This study aimed to identify the molecular etiology of congenital insensitivity to pain in two Thai patients. Clinical, radiographic, histopathologic, immunohistochemical, and molecular studies were performed. Patients were found to have congenital insensitivity to pain, self-mutilation, acro-osteolysis, cornea scars, reduced temperature sensation, tooth agenesis, root maldevelopment, and underdeveloped maxilla and mandible. The skin biopsies revealed fewer axons, decreased vimentin expression, and absent neurofilament expression, indicating lack of dermal nerves. Whole exome and Sanger sequencing identified a rare homozygous variant c.4039C>T; p.Arg1347Cys in the plakin domain of

Indexed as

HomozygotePain Insensitivity, CongenitalPlectinChildExome SequencingFemaleHumansMaleMutation, MissensePedigreePLEC protein, humanPlectinabsence of pain sensationacro-osteolysiscorneal scardental anomalieslack of pain sensationPlec mutationtooth agenesis

Identifiers

PMID38928066
PMCPMC11203604

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.