ArticlePloS one2013
A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01630460 (Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms), which is not on this map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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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.
Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms
Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 74 citations in OpenAlex.
- Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.BioMed research international · 2014Pooled it
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- Skeletal abnormalities caused by a Connexin43Bone research · 2025Article
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- Macrocephaly and Finger Changes: A Narrative Review.International journal of molecular sciences · 2024Review
- Connexin 43 and cell culture substrate differentially regulate OCY454 osteocytic differentiation and signaling to primary bone cells.American journal of physiology. Cell physiology · 2023Article
- Role of Cx43 on the Bone Cell Generation, Function, and Survival.Bioelectricity · 2023Article
- Wnt/β-Catenin Signaling in Craniomaxillofacial Osteocytes.Current osteoporosis reports · 2023Review
- Increased Hemichannel Activity Displayed by a Connexin43 Mutation Causing a Familial Connexinopathy Exhibiting Hypotrichosis with Follicular Keratosis and Hyperostosis.International journal of molecular sciences · 2023Article
- Polygenic Risk Score Improves Cataract Prediction in East Asian Population.Biomedicines · 2022Article
- Connexinplexity: the spatial and temporal expression of connexin genes during vertebrate organogenesis.G3 (Bethesda, Md.) · 2022Article
- Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?International journal of molecular sciences · 2021Review
- Diagnostic Approach to Macrocephaly in Children.Frontiers in pediatrics · 2021Review
- HeterozygousMolecular vision · 2021Article
- The Role of Connexin Channels in the Response of Mechanical Loading and Unloading of Bone.International journal of molecular sciences · 2020Review
- Connexin43 enhances Wnt and PGE2-dependent activation of β-catenin in osteoblasts.Pflugers Archiv : European journal of physiology · 2019Article
- Tissue engineered bone mimetics to study bone disorders ex vivo: Role of bioinspired materials.Biomaterials · 2019Review
- Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population.Scientific reports · 2018Article
- Human Genetics of Sclerosing Bone Disorders.Current osteoporosis reports · 2018Review
- ATP Release Channels.International journal of molecular sciences · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 6 institutions in 4 countries.
Funding
Abstract
Craniometaphyseal dysplasia (CMD) is a rare sclerosing skeletal disorder with progressive hyperostosis of craniofacial bones. CMD can be inherited in an autosomal dominant (AD) trait or occur after de novo mutations in the pyrophosphate transporter ANKH. Although the autosomal recessive (AR) form of CMD had been mapped to 6q21-22 the mutation has been elusive. In this study, we performed whole-exome sequencing for one subject with AR CMD and identified a novel missense mutation (c.716G>A, p.Arg239Gln) in the C-terminus of the gap junction protein alpha-1 (GJA1) coding for connexin 43 (Cx43). We confirmed this mutation in 6 individuals from 3 additional families. The homozygous mutation cosegregated only with affected family members. Connexin 43 is a major component of gap junctions in osteoblasts, osteocytes, osteoclasts and chondrocytes. Gap junctions are responsible for the diffusion of low molecular weight molecules between cells. Mutations in Cx43 cause several dominant and recessive disorders involving developmental abnormalities of bone such as dominant and recessive oculodentodigital dysplasia (ODDD; MIM #164200, 257850) and isolated syndactyly type III (MIM #186100), the characteristic digital anomaly in ODDD. However, characteristic ocular and dental features of ODDD as well as syndactyly are absent in patients with the recessive Arg239Gln Cx43 mutation. Bone remodeling mechanisms disrupted by this novel Cx43 mutation remain to be elucidated.
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Registered trials
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