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John M Graham - One of the best experts on this subject based on the ideXlab platform.
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van den ende gupta syndrome of blepharophimosis arachnodactyly and congenital contractures clinical delineation and recurrence in brothers
American Journal of Medical Genetics Part A, 2003Co-Authors: Daniela N Schweitzer, Ralph S Lachman, Barry D Pressman, John M GrahamAbstract:We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic features, skeletal abnormalities, and cerebellar hyperplasia. This syndrome was previously delineated by van den Ende et al. [1992: Am J Med Genet 42:467-469] and Gupta et al. [1995: J Med Genet 32:809-812], with additional reports by Phadke et al. [1998: Am J Med Genet 77:16-18] and Bistritzer et al. [1993: Clin Genet 44:15-19]. This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. This report of affected siblings, and a previous report of double second cousins born to consanguineous parents [Bistritzer et al. [1993: Clin Genet 44:15-19]], suggests autosomal recessive inheritance. This brings to eight, the total number of reported cases, derived from six families, three of which are consanguineous. It is important to distinguish VDEGS from Marden-Walker syndrome (MWS) since both syndromes include blepharophimosis, arachnodactyly, and congenital contractures. Both syndromes are inherited in an autosomal recessive fashion, but VDEGS lacks severe mental retardation, serious brain malformations, microcephaly, failure to thrive, and severe joint limitation, which are consistently present in MWS. Of particular importance, MWS may be associated with cerebellar malformations such as Dandy-Walker malformation, while the brothers reported herein with VDEGS both demonstrated distinctive cerebellar enlargement, a new finding for this disorder. While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with ocular hypertelorism, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.
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syndrome of coronal craniosynostosis with brachydactyly and carpal tarsal coalition due to pro250arg mutation in fgfr3 gene
American Journal of Medical Genetics, 1998Co-Authors: John M Graham, Ralph S Lachman, Stephen R Braddock, Geert Mortier, Cornelis Van Dop, Ethylin Wang JabsAbstract:Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of this apparently common mutation has resulted in the definition of a recognizable syndrome, through analysis of subtle clinical findings in families who were previously thought to have a variety of other craniosynostosis syndromes. Previous diagnoses in some of these families have included Jackson-Weiss, Saethre-Chotzen, and Pfeiffer syndromes, as well as Adelaide-type craniosynostosis and brachydactyly-craniosynostosis syndrome [Ades et al. (1994): Am J Med Genet 51:121-130; von Gernet et al. (1996): Am J Med Genet 63:177-184; Reardon et al. (1997): J Med Genet 34:632-636; Bellus et al. (1996): Nat Genet 14:174-176; Hollaway et al. (1995): Hum Mol Genet 4:681-683; Glass et al. (1994): Clin Dysmorphol 3:215-223]. There appears to be a need to further delineate the phenotype associated with this common mutation in FGFR3. We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis.
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syndrome of coronal craniosynostosis with brachydactyly and carpal tarsal coalition due to pro250arg mutation in fgfr3 gene
American Journal of Medical Genetics, 1998Co-Authors: John M Graham, Ralph S Lachman, Stephen R Braddock, Geert Mortier, Ethylin Wang JabsAbstract:Recently, a unique Pro250Arg point muta-tion in fibroblast growth factor receptor 3(FGFR3) was reported in 61 individualswith coronal craniosynostosis from 20 unre-lated families [Muenke et al. (1997): Am JHum Genet 60:555–564]. The discovery ofthis apparently common mutation has re-sulted in the definition of a recognizablesyndrome, through analysis of subtle clini-cal findings in families who were previouslythought to have a variety of other cranio-synostosis syndromes. Previous diagnosesin some of these families have includedJackson-Weiss, Saethre-Chotzen, andPfeiffer syndromes, as well as Adelaide-typecraniosynostosis and brachydactyly-craniosynostosis syndrome [Ade`s et al.(1994): Am J Med Genet 51:121–130; von Ger-net et al. (1996): Am J Med Genet 63:177–184;Reardon et al. (1997): J Med Genet 34:632–636; Bellus et al. (1996): Nat Genet 14:174–176; Hollaway et al. (1995): Hum Mol Genet4:681–683; Glass et al. (1994): Clin Dysmor-phol 3:215–223]. There appears to be a needto further delineate the phenotype associ-ated with this common mutation in FGFR3.We compare the clinical characteristics ofpreviously reported cases of this uniquePro250Arg mutation with those of two addi-tional families and suggest that this syn-drome with a unique mutational basis bedesignated coronal craniosynostosis withbrachydactyly and carpal/tarsal coalitiondue to Pro250Arg mutation in FGFR3 gene,to emphasize the distinctive findings whichmay be present even in the absence of coro-nal craniosynostosis. Am. J. Med. Genet.77:322–329, 1998.
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GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome
Nature genetics, 1997Co-Authors: Seongman Kang, Ann Haskins Olney, John M Graham, Leslie G. BieseckerAbstract:Pallister-Hall syndrome (PHS, M146510) was first described in 1980 in six newborns. It is a pleiotropic disorder of human development that comprises hypothalamic hamartoma, central polydactyly, and other malformations1,2. This disorder is inherited as an autosomal dominant trait and has been mapped to 7p13 (S. Kang et al. Autosomal dominant Pallister-Hall syndrome maps to 7p13. Am. J. Hum. Genet. 59, A81 (1996)). co-localizing the PHS locus and the GLI3 zinc finger transcription factor gene3. Large deletions or translocations resulting in haploinsufficiency of the GLI3 gene have been associated with Greig cephalopolysyndactyly syndrome (GCPS; M175700)4–6 although no mutations have been identified in GCPS patients with normal karyotypes. Both PHS and GCPS have polysyndactyly, abnormal craniofacial features and are inherited in an autosomal dominant pattern, but they are clinically distinct7,8. The polydactyly of GCPS is commonly preaxial and that of PHS is typically central or postaxial. No reported cases of GCPS have hypothalamic hamartoma and PHS does not cause hypertelorism or broadening of the nasal root or forehead. The co-localization of the loci for PHS and GCPS led us to investigate GLI3 as a candidate gene for PHS. Herein we report two PHS families with frameshift mutations in GLI3 that are 3′ of the zinc finger-encoding domains, including one family with a de novo mutation. These data implicate mutations in GLI3 as the cause of autosomal dominant PHS, and suggest that frameshift mutations of the GLI3 transcription factor gene can alter the development of multiple organ systems in vertebrates.
Ralph S Lachman - One of the best experts on this subject based on the ideXlab platform.
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van den ende gupta syndrome of blepharophimosis arachnodactyly and congenital contractures clinical delineation and recurrence in brothers
American Journal of Medical Genetics Part A, 2003Co-Authors: Daniela N Schweitzer, Ralph S Lachman, Barry D Pressman, John M GrahamAbstract:We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic features, skeletal abnormalities, and cerebellar hyperplasia. This syndrome was previously delineated by van den Ende et al. [1992: Am J Med Genet 42:467-469] and Gupta et al. [1995: J Med Genet 32:809-812], with additional reports by Phadke et al. [1998: Am J Med Genet 77:16-18] and Bistritzer et al. [1993: Clin Genet 44:15-19]. This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. This report of affected siblings, and a previous report of double second cousins born to consanguineous parents [Bistritzer et al. [1993: Clin Genet 44:15-19]], suggests autosomal recessive inheritance. This brings to eight, the total number of reported cases, derived from six families, three of which are consanguineous. It is important to distinguish VDEGS from Marden-Walker syndrome (MWS) since both syndromes include blepharophimosis, arachnodactyly, and congenital contractures. Both syndromes are inherited in an autosomal recessive fashion, but VDEGS lacks severe mental retardation, serious brain malformations, microcephaly, failure to thrive, and severe joint limitation, which are consistently present in MWS. Of particular importance, MWS may be associated with cerebellar malformations such as Dandy-Walker malformation, while the brothers reported herein with VDEGS both demonstrated distinctive cerebellar enlargement, a new finding for this disorder. While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with ocular hypertelorism, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.
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syndrome of coronal craniosynostosis with brachydactyly and carpal tarsal coalition due to pro250arg mutation in fgfr3 gene
American Journal of Medical Genetics, 1998Co-Authors: John M Graham, Ralph S Lachman, Stephen R Braddock, Geert Mortier, Cornelis Van Dop, Ethylin Wang JabsAbstract:Recently, a unique Pro250Arg point mutation in fibroblast growth factor receptor 3 (FGFR3) was reported in 61 individuals with coronal craniosynostosis from 20 unrelated families [Muenke et al. (1997): Am J Hum Genet 60:555-564]. The discovery of this apparently common mutation has resulted in the definition of a recognizable syndrome, through analysis of subtle clinical findings in families who were previously thought to have a variety of other craniosynostosis syndromes. Previous diagnoses in some of these families have included Jackson-Weiss, Saethre-Chotzen, and Pfeiffer syndromes, as well as Adelaide-type craniosynostosis and brachydactyly-craniosynostosis syndrome [Ades et al. (1994): Am J Med Genet 51:121-130; von Gernet et al. (1996): Am J Med Genet 63:177-184; Reardon et al. (1997): J Med Genet 34:632-636; Bellus et al. (1996): Nat Genet 14:174-176; Hollaway et al. (1995): Hum Mol Genet 4:681-683; Glass et al. (1994): Clin Dysmorphol 3:215-223]. There appears to be a need to further delineate the phenotype associated with this common mutation in FGFR3. We compare the clinical characteristics of previously reported cases of this unique Pro250Arg mutation with those of two additional families and suggest that this syndrome with a unique mutational basis be designated coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene, to emphasize the distinctive findings which may be present even in the absence of coronal craniosynostosis.
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syndrome of coronal craniosynostosis with brachydactyly and carpal tarsal coalition due to pro250arg mutation in fgfr3 gene
American Journal of Medical Genetics, 1998Co-Authors: John M Graham, Ralph S Lachman, Stephen R Braddock, Geert Mortier, Ethylin Wang JabsAbstract:Recently, a unique Pro250Arg point muta-tion in fibroblast growth factor receptor 3(FGFR3) was reported in 61 individualswith coronal craniosynostosis from 20 unre-lated families [Muenke et al. (1997): Am JHum Genet 60:555–564]. The discovery ofthis apparently common mutation has re-sulted in the definition of a recognizablesyndrome, through analysis of subtle clini-cal findings in families who were previouslythought to have a variety of other cranio-synostosis syndromes. Previous diagnosesin some of these families have includedJackson-Weiss, Saethre-Chotzen, andPfeiffer syndromes, as well as Adelaide-typecraniosynostosis and brachydactyly-craniosynostosis syndrome [Ade`s et al.(1994): Am J Med Genet 51:121–130; von Ger-net et al. (1996): Am J Med Genet 63:177–184;Reardon et al. (1997): J Med Genet 34:632–636; Bellus et al. (1996): Nat Genet 14:174–176; Hollaway et al. (1995): Hum Mol Genet4:681–683; Glass et al. (1994): Clin Dysmor-phol 3:215–223]. There appears to be a needto further delineate the phenotype associ-ated with this common mutation in FGFR3.We compare the clinical characteristics ofpreviously reported cases of this uniquePro250Arg mutation with those of two addi-tional families and suggest that this syn-drome with a unique mutational basis bedesignated coronal craniosynostosis withbrachydactyly and carpal/tarsal coalitiondue to Pro250Arg mutation in FGFR3 gene,to emphasize the distinctive findings whichmay be present even in the absence of coro-nal craniosynostosis. Am. J. Med. Genet.77:322–329, 1998.
Marc Colyn - One of the best experts on this subject based on the ideXlab platform.
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first molecular evidence for reassessing phyloGenetic affinities between Genets Genetta and the enigmatic Genet like taxa osbornictis poiana and prionodon carnivora viverridae
Zoologica Scripta, 2004Co-Authors: Philippe Gaubert, Michel Tranier, Annesophie Delmas, Marc ColynAbstract:Gaubert, P., Tranier, M., Delmas, A.-S., Colyn, M. & Veron, G. (2004). First molecular evidence for reassessing phyloGenetic affinities between Genets (Genetta) and the enigmatic Genet-like taxa Osbornictis, Poiana and Prionodon (Carnivora, Viverridae). —Zoologica Scripta, 33, 117–129. The subfamily Viverrinae is a composite group of carnivores comprising the large and plantigrade terrestrial civets (Civettictis, Viverricula and Viverra) and the slender and generally more arboreal Genets and Genet-like taxa (Genetta, Prionodon, Poiana, Osbornictis), both having Asiatic and African representatives. The problematic phyloGenetic relationships between Genets and Genet-like taxa are addressed for the first time from a molecular perspective through complete cytochrome b gene sequences. We used a large taxonomic sample set including some very rare and crucial species such as Osbornictis piscivora, Poiana richardsonii (museum specimen material) and Genetta johnstoni. The results from parsimony, distance and maximum likelihood analyses do not support the monophyly of the Viverrinae and contradict previous morphological hypotheses. The Asiatic linsangs (Prionodon spp.) are excluded from the Viverrinae and represent either a basal Feliformia or Viverridae. The other Genet-like taxa constitute a strongly supported monophyletic African group, in which the African linsang (represented by Poiana richardsonii) is a sister group to the Genets. The aquatic Genet Osbornictis piscivora is included within the latter clade, and the genus Osbornictis should be considered a junior synonym of Genetta. African and Asiatic terrestrial civets are monophyletic, but their phyloGenetic affinities with the Genet-like clade are inconclusive using our data set. On the basis of our molecular results, morphological convergences and adaptations to peculiar habitats and ways of life within Genets and Genet-like taxa are discussed.
Daniela N Schweitzer - One of the best experts on this subject based on the ideXlab platform.
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van den ende gupta syndrome of blepharophimosis arachnodactyly and congenital contractures clinical delineation and recurrence in brothers
American Journal of Medical Genetics Part A, 2003Co-Authors: Daniela N Schweitzer, Ralph S Lachman, Barry D Pressman, John M GrahamAbstract:We describe two Hispanic brothers born to unrelated parents with van den Ende-Gupta syndrome (VDEGS), a distinctive combination of characteristic dysmorphic features, skeletal abnormalities, and cerebellar hyperplasia. This syndrome was previously delineated by van den Ende et al. [1992: Am J Med Genet 42:467-469] and Gupta et al. [1995: J Med Genet 32:809-812], with additional reports by Phadke et al. [1998: Am J Med Genet 77:16-18] and Bistritzer et al. [1993: Clin Genet 44:15-19]. This is the fifth report of VDEGS, which is characterized by blepharophimosis, narrow nose with hypoplastic alae nasi, hypoplastic maxilla, everted lower lip, slender and elongated hands and feet, arachnodactyly, self-limiting joint contractures, and distinctive skeletal findings. This report of affected siblings, and a previous report of double second cousins born to consanguineous parents [Bistritzer et al. [1993: Clin Genet 44:15-19]], suggests autosomal recessive inheritance. This brings to eight, the total number of reported cases, derived from six families, three of which are consanguineous. It is important to distinguish VDEGS from Marden-Walker syndrome (MWS) since both syndromes include blepharophimosis, arachnodactyly, and congenital contractures. Both syndromes are inherited in an autosomal recessive fashion, but VDEGS lacks severe mental retardation, serious brain malformations, microcephaly, failure to thrive, and severe joint limitation, which are consistently present in MWS. Of particular importance, MWS may be associated with cerebellar malformations such as Dandy-Walker malformation, while the brothers reported herein with VDEGS both demonstrated distinctive cerebellar enlargement, a new finding for this disorder. While, congenital contractures with arachnodactyly are features commonly seen in several other delineated syndromes, such as congenital contractural arachnodactyly (CCA) syndrome, characteristic facial features (blepharophimosis, narrow nose with ocular hypertelorism, prominent ears, and everted lower lip), distinguish VDEGS from other syndromes associated with CCA, including CCA.
Philippe Gaubert - One of the best experts on this subject based on the ideXlab platform.
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first molecular evidence for reassessing phyloGenetic affinities between Genets Genetta and the enigmatic Genet like taxa osbornictis poiana and prionodon carnivora viverridae
Zoologica Scripta, 2004Co-Authors: Philippe Gaubert, Michel Tranier, Annesophie Delmas, Marc ColynAbstract:Gaubert, P., Tranier, M., Delmas, A.-S., Colyn, M. & Veron, G. (2004). First molecular evidence for reassessing phyloGenetic affinities between Genets (Genetta) and the enigmatic Genet-like taxa Osbornictis, Poiana and Prionodon (Carnivora, Viverridae). —Zoologica Scripta, 33, 117–129. The subfamily Viverrinae is a composite group of carnivores comprising the large and plantigrade terrestrial civets (Civettictis, Viverricula and Viverra) and the slender and generally more arboreal Genets and Genet-like taxa (Genetta, Prionodon, Poiana, Osbornictis), both having Asiatic and African representatives. The problematic phyloGenetic relationships between Genets and Genet-like taxa are addressed for the first time from a molecular perspective through complete cytochrome b gene sequences. We used a large taxonomic sample set including some very rare and crucial species such as Osbornictis piscivora, Poiana richardsonii (museum specimen material) and Genetta johnstoni. The results from parsimony, distance and maximum likelihood analyses do not support the monophyly of the Viverrinae and contradict previous morphological hypotheses. The Asiatic linsangs (Prionodon spp.) are excluded from the Viverrinae and represent either a basal Feliformia or Viverridae. The other Genet-like taxa constitute a strongly supported monophyletic African group, in which the African linsang (represented by Poiana richardsonii) is a sister group to the Genets. The aquatic Genet Osbornictis piscivora is included within the latter clade, and the genus Osbornictis should be considered a junior synonym of Genetta. African and Asiatic terrestrial civets are monophyletic, but their phyloGenetic affinities with the Genet-like clade are inconclusive using our data set. On the basis of our molecular results, morphological convergences and adaptations to peculiar habitats and ways of life within Genets and Genet-like taxa are discussed.
