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Michael J. Dixon - One of the best experts on this subject based on the ideXlab platform.
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Novel Mutations in GJA1 Cause Oculodentodigital Syndrome
Journal of dental research, 2008Co-Authors: A. Fenwick, Rebecca J. Richardson, J. Butterworth, Martin J. Barron, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a rare, usually autosomal-dominant disorder that is characterized by developmental abnormalities of the face, eyes, teeth, and limbs. The most common clinical findings include a long, narrow nose, short palpebral fissures, type III syndactyly, and dental abnormalities including generalized microdontia and enamel hypoplasia. Recently, it has been shown that mutations in the gene GJA1, which encodes the gap junction protein connexin 43, underlie Oculodentodigital Syndrome. Gap junction communication between adjacent cells is known to be vital during embryogenesis and subsequently for normal tissue homeostasis. Here, we report 8 missense mutations in the coding region of GJA1, 6 of which have not been described previously, in ten unrelated families diagnosed with ODD. In addition, immunofluorescence analyses of a developmental series of mouse embryos and adult tissue demonstrates a strong correlation between the sites of connexin 43 expression and the clinical phenotype displayed by individuals affected by ODD.
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A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive Oculodentodigital Syndrome
Journal of medical genetics, 2005Co-Authors: Rebecca J. Richardson, Shelagh Joss, S Tomkin, Mushtaq Ahmed, Eamonn Sheridan, Michael J. DixonAbstract:Background: Oculodentodigital Syndrome (ODD) is a pleiotropic congenital disorder characterised by abnormalities of the face, eyes, dentition, and limbs. ODD, which is inherited as an autosomal dominant trait, results from missense mutations in the gap junction protein connexin 43. Objective: To analyse a family with a history of ODD which is inherited in an autosomal recessive manner Results: ODD in this family resulted from the homozygous mutation R33X in the first transmembrane domain of connexin 43. Conclusions: The findings provide clear genetic evidence that ODD can be inherited in an autosomal recessive manner and that a dominant negative mechanism underlies autosomal dominant ODD.
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Localization of a Gene for Oculodentodigital Syndrome to Human Chromosome 6q22–q24
Human molecular genetics, 1997Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Connie Schrander-stumpel, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Robin M. Winter, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
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localization of a gene for Oculodentodigital Syndrome to human chromosome 6q22 q24
Human Molecular Genetics, 1997Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Robin M. Winter, Connie Schranderstumpel, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
Dian Donnai - One of the best experts on this subject based on the ideXlab platform.
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expression of gja1 correlates with the phenotype observed in Oculodentodigital Syndrome type iii syndactyly
Journal of Medical Genetics, 2004Co-Authors: Rr Richardson, Dian Donnai, Francoise Meire, Mj DixonAbstract:Oculodentodigital Syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.1 In addition, a high rate of de novo mutations is observed.2 Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.3,4 Secondary glaucoma occurs in a number of patients.5 Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.2 In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.2,6 Cleft palate has also been reported in a number of cases.6–9 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …
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Expression of Gja1 correlates with the phenotype observed in Oculodentodigital Syndrome/type III syndactyly
Journal of medical genetics, 2004Co-Authors: Rr Richardson, Dian Donnai, Francoise Meire, Mj DixonAbstract:Oculodentodigital Syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.1 In addition, a high rate of de novo mutations is observed.2 Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.3,4 Secondary glaucoma occurs in a number of patients.5 Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.2 In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.2,6 Cleft palate has also been reported in a number of cases.6–9 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …
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Localization of a Gene for Oculodentodigital Syndrome to Human Chromosome 6q22–q24
Human molecular genetics, 1997Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Connie Schrander-stumpel, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Robin M. Winter, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
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localization of a gene for Oculodentodigital Syndrome to human chromosome 6q22 q24
Human Molecular Genetics, 1997Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Robin M. Winter, Connie Schranderstumpel, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
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Localization of a gene for Oculodentodigital Syndrome to human chromosome 6q22–q24
1996Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Connie Schr, Robin Winter, Michael DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; θ = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome
Mj Dixon - One of the best experts on this subject based on the ideXlab platform.
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expression of gja1 correlates with the phenotype observed in Oculodentodigital Syndrome type iii syndactyly
Journal of Medical Genetics, 2004Co-Authors: Rr Richardson, Dian Donnai, Francoise Meire, Mj DixonAbstract:Oculodentodigital Syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.1 In addition, a high rate of de novo mutations is observed.2 Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.3,4 Secondary glaucoma occurs in a number of patients.5 Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.2 In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.2,6 Cleft palate has also been reported in a number of cases.6–9 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …
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Expression of Gja1 correlates with the phenotype observed in Oculodentodigital Syndrome/type III syndactyly
Journal of medical genetics, 2004Co-Authors: Rr Richardson, Dian Donnai, Francoise Meire, Mj DixonAbstract:Oculodentodigital Syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.1 In addition, a high rate of de novo mutations is observed.2 Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.3,4 Secondary glaucoma occurs in a number of patients.5 Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.2 In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.2,6 Cleft palate has also been reported in a number of cases.6–9 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …
Amanda J. Gladwin - One of the best experts on this subject based on the ideXlab platform.
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Localization of a Gene for Oculodentodigital Syndrome to Human Chromosome 6q22–q24
Human molecular genetics, 1997Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Connie Schrander-stumpel, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Robin M. Winter, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
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localization of a gene for Oculodentodigital Syndrome to human chromosome 6q22 q24
Human Molecular Genetics, 1997Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Robin M. Winter, Connie Schranderstumpel, Michael J. DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; theta = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome.
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Localization of a gene for Oculodentodigital Syndrome to human chromosome 6q22–q24
1996Co-Authors: Amanda J. Gladwin, Dian Donnai, Kay Metcalfe, Louise Brueton, Alain Verloes, Arthur S. Aylsworth, Helga V. Toriello, Connie Schr, Robin Winter, Michael DixonAbstract:Oculodentodigital Syndrome (ODD) is a congenital, autosomal dominant disorder which affects the development of the face, eyes, limbs and dentition. Spastic paraparesis is thought to be an occasional manifestation of the disorder. Type III syndactyly, which occurs as part of ODD, has also been reported to occur as an isolated entity. In the current investigation, a total genome search for the location of the ODD locus was instigated and linkage to polymorphic markers located on chromosome 6q established (pairwise Zmax = 9.37; θ = 0.001). Analysis of a large family with type III syndactyly, but atypical facial features, further suggested that isolated type III syndactyly is also located in this same region of the genome
Rr Richardson - One of the best experts on this subject based on the ideXlab platform.
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expression of gja1 correlates with the phenotype observed in Oculodentodigital Syndrome type iii syndactyly
Journal of Medical Genetics, 2004Co-Authors: Rr Richardson, Dian Donnai, Francoise Meire, Mj DixonAbstract:Oculodentodigital Syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.1 In addition, a high rate of de novo mutations is observed.2 Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.3,4 Secondary glaucoma occurs in a number of patients.5 Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.2 In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.2,6 Cleft palate has also been reported in a number of cases.6–9 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …
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Expression of Gja1 correlates with the phenotype observed in Oculodentodigital Syndrome/type III syndactyly
Journal of medical genetics, 2004Co-Authors: Rr Richardson, Dian Donnai, Francoise Meire, Mj DixonAbstract:Oculodentodigital Syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face, eyes, limbs, and dentition. ODD is inherited in an autosomal dominant fashion and displays high penetrance but variable expression.1 In addition, a high rate of de novo mutations is observed.2 Facially, affected patients exhibit a long, narrow nose with hypoplastic alae, thin, anteverted nostrils and a prominent nasal bridge, short palpebral fissures, and bilateral microcornea often with anomalies of the iris.3,4 Secondary glaucoma occurs in a number of patients.5 Bilateral complete syndactyly of the fourth and fifth fingers (type III syndactyly) is the characteristic digital malformation. The third finger may occasionally also be involved and associated camptodactyly is a common finding.2 In addition, microdontia and generalised hypoplasia of the enamel, which tends to affect both the primary and secondary dentitions, are frequently observed.2,6 Cleft palate has also been reported in a number of cases.6–9 Less common features include thin, sparse hair and conductive deafness. Spastic paraparesis or lower limb weakness in association with ODD has been reported in a number of sporadic and familial cases.2,6,9–11 In two of these reports, magnetic resonance imaging demonstrated an underlying leukodystrophy and it has, therefore, been proposed that the definition of ODD be widened to include these features.10,11 Type III syndactyly has also been reported to occur as an isolated entity in several autosomal dominant pedigrees and it is uncertain whether this anomaly and ODD are separate genetic entities or part of the same disease spectrum.12–15 However, a family has been reported who, while not exhibiting the usual ocular or dental anomalies associated with ODD, did have a facial appearance that appeared to bridge the gap between the two conditions. …
