Evidence map›Paper›PMID 38630328›Full record

ArticleClinical oral investigations2024

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Nehal F Hassib, Mennat Mehrez, Mostafa I Mostafa, Mohamed S Abdel-Hamid

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

Article in Clinical oral investigations, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.5field-weighted citation impact, top 37% of its field
1 · What the graph read from it

What it found

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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

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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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

4 authors at 1 institution in 1 country.

Nehal F HassibOrodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 33 ElBohous street, Dokki, P.O.12622, Cairo, 3337 09 31, Egypt. nounih@hotmail.com.
Mennat MehrezOrodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 33 ElBohous street, Dokki, P.O.12622, Cairo, 3337 09 31, Egypt.
Mostafa I MostafaOrodental Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 33 ElBohous street, Dokki, P.O.12622, Cairo, 3337 09 31, Egypt.
Mohamed S Abdel-HamidMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.
National Research Centre · EG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveDentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI. Additionally, we focused on genetic counselling of the two families. MATERIALS AND

methodsThe patients were examined clinically and dentally. Panoramic X-rays were done to some patients. Whole exome sequencing (WES) and Sanger sequencing were used.

resultsWES revealed two new nonsense variants in DSPP gene, c.288T > A (p.Tyr96Ter) and c.255G > A (p.Trp85Ter). Segregation analysis by Sanger sequencing confirmed the presence of the first variant in all affected members of Family 1 while the second variant was confirmed to be de novo in the patient of Family 2. CONCLUSIONS AND CLINICAL RELEVANCE: Our study extends the number of DSPP pathogenic variants and strengthens the fact that DSPP is the most common DI causative gene irrespective of patients' ethnicity. In addition, we provide insights on genetic counseling issues in patients with inherited DSPP variants taking into consideration the variable religion, culture and laws in our society.

Indexed as

Dentinogenesis ImperfectaOsteochondrodysplasiasEthnicityGenetic CounselingHumansRadiography, PanoramicDentinogenesis imperfectaDSPPEgyptian patientsGenetic counselingNovel variants

Identifiers

PMID38630328
PMCPMC11024031
OpenAlexW4394873726

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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.