Trial reportMolecular genetics & genomic medicine2019
Two novel GJA1 variants in oculodentodigital dysplasia.
Trial report in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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.
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.
Who cites it
9 citing papers in PubMed, 7 citations in OpenAlex.
- Two novel GJA1 variants in oculodentodigital dysplasia.Molecular genetics & genomic medicine · 2019Trial
- Transcriptomic Challenges We Faced with Animal Models for Neurological Disorders.Current issues in molecular biology · 2026Review
- Oculodentodigital Dysplasia Presenting as Spastic Ataxic Syndrome in an Indian Patient.Annals of Indian Academy of Neurology · 2025Article
- Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder.Human genome variation · 2024Article
- Cohesin: an emerging master regulator at the heart of cardiac development.Molecular biology of the cell · 2023Article
- Emerging cellular themes in leukodystrophies.Frontiers in cell and developmental biology · 2022Review
- A Cellular Assay for the Identification and Characterization of Connexin Gap Junction Modulators.International journal of molecular sciences · 2021Article
- Role of connexin 43 in odontoblastic differentiation and structural maintenance in pulp damage repair.International journal of oral science · 2021Article
- Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases.Case reports in ophthalmological medicine · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOculodentodigital dysplasia (ODDD) is a rare disorder with pleiotropic effects involving multiple body systems, caused by mutations in the gap junction protein alpha 1 (GJA1) gene. GJA1 gene encodes a polytopic connexin membrane protein, Cx43, that is a component of connexon membrane channels.
methodsWe describe two unrelated female probands referred for a genetic review in view of a dysmorphic clinical phenotype.
resultsTwo novel missense mutations in GJA1 that substitute conserved amino acids in the first and second transmembrane domains (NM_000165.5: c.77T>C p.Leu26Pro and NM_000165.5:c.287T>G p.Val96Gly) were detected through targeted sequencing of GJA1. These variants were detected in the heterozygous state in the two Maltese probands and segregated with the disease phenotype.
conclusionThis report further expands the mutational spectrum of ODDD.
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Registered trials
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.