Evidence map›Paper›PMID 31243241›Full record

ArticleInternal medicine (Tokyo, Japan)2019

An Orofaciodigital Syndrome 1 Patient and Her Mother Carry the Same OFD1 Mutation but Have Different X Chromosome Inactivation Patterns.

Takashi Iijima, Noriko Hayami, Kenmei Takaichi, Naoya Morisada, Kandai Nozu, Kazumoto Iijima, Naoki Sawa, Junichi Hoshino, Yoshifumi Ubara

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

Article in Internal medicine (Tokyo, Japan), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.5field-weighted citation impact, top 27% 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

5 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Article
  3. OFD1: One gene, several disorders.American journal of medical genetics. Part C, Seminars in medical genetics · 2022
    Review
  4. Article
  5. 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

9 authors at 2 institutions in 1 country.

Takashi IijimaNephrology Center, Toranomon Hospital Kajigaya, Japan.
Noriko HayamiNephrology Center, Toranomon Hospital Kajigaya, Japan.
Kenmei TakaichiNephrology Center, Toranomon Hospital Kajigaya, Japan.
Naoya MorisadaDepartment of Pediatrics, Kobe University, Japan.
Kandai NozuDepartment of Pediatrics, Kobe University, Japan.
Kazumoto IijimaDepartment of Pediatrics, Kobe University, Japan.
Naoki SawaNephrology Center, Toranomon Hospital Kajigaya, Japan.
Junichi HoshinoNephrology Center, Toranomon Hospital Kajigaya, Japan.
Yoshifumi UbaraNephrology Center, Toranomon Hospital Kajigaya, Japan.
Toranomon Hospital · JPKobe University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Orofaciodigital syndrome 1 (OFD-1) is a rare, X-linked, dominantly inherited disorder caused by an OFD1 mutation that can cause polycystic kidneys. A 37-year-old woman on hemodialysis therapy was admitted to our hospital for trans-catheter arterial embolization therapy for enlarged polycystic kidneys. Lobulated tongue and brachydactyly were noticed, prompting an OFD1 sequencing analysis. Sequencing revealed a causal four-base-pair deletion in exon 13, both in the patient and in her mother, whose renal function had been retained. The peripheral leukocyte X chromosome inactivation pattern was skewed in the patient but not in her mother, suggesting some role in their phenotypic difference.

Indexed as

AdultDNADNA Mutational AnalysisExonsFemaleHumansMagnetic Resonance ImagingMothersMutationOrofaciodigital SyndromesPedigreeProteinsRadiography, PanoramicSequence DeletionX Chromosome InactivationDNAOFD1 protein, humanProteinsorofaciodigital syndrome 1polycystic kidneyX chromosome inactivation

Identifiers

PMID31243241
PMCPMC6859397
OpenAlexW2955858519

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.