Evidence map›Paper›PMID 27957444›Full record

ArticleIranian journal of public health2016

A Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report.

Masoud Dehghan Tezerjani, Reza Maroofian, Mohammad Yahya Vahidi Mehrjardi, Barry A Chioza, Shiva Zamaninejad, Seyed Mehdi Kalantar, Mahmoud Nori-Shadkam, Hamidreza Ghadimi, Emma L Baple, Andrew H Crosby and 1 more

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In one paragraph

Article in Iranian journal of public health, 2016. 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, top 90% 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

4 citing papers in PubMed, 6 citations in OpenAlex.

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

11 authors at 2 institutions in 2 countries.

Masoud Dehghan TezerjaniMedical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Reza MaroofianMonogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK.
Mohammad Yahya Vahidi MehrjardiMedical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Dept. of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Barry A ChiozaMonogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK.
Shiva ZamaninejadFaculty of Dentistry, Golestan Uinversity of Medical Sciences, Gorgan, Iran.
Seyed Mehdi KalantarResearch and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Dept. of Medical Genetics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Mahmoud Nori-ShadkamDept. of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Hamidreza GhadimiFaculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Emma L BapleHuman Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton, and Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK.
Andrew H CrosbyMonogenic Molecular Genetics, University of Exeter Medical School, Exeter EX1 2LU, UK.
Mohammadreza DehghaniMedical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.
Princess Anne Hospital · GBTehran University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits. Furthermore, central nervous system (CNS) abnormalities can also be part of this developmental disorder. At least 13 forms of OFDS based on their pattern of signs and symptoms have been identified so far. Type 1 which is now considered to be a ciliopathy accounts for the majority of cases. It is transmitted in an X-linked dominant pattern and caused by mutations in OFD1 gene, which can result in embryonic male lethality. In this study, we present a family suffering from orofaciodigital syndrome type I who referred to Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences in 2015. Two female siblings and their mother shared a novel 2-base pair deletion (c.1964-1965delGA) in exon 16 of OFD1 gene. Clinically, the sibling had oral, facial and brain abnormalities, whereas their mother is very mildly affected. She also had history of recurrent miscarriage of male fetus.

Indexed as

CiliopathyMiscarriageOFD1Oral-facial-digital syndromeX-linked dominant

Identifiers

PMID27957444
PMCPMC5149501
OpenAlexW2543274007

What OpenQuestion holds

Textmetadata
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.