The Experts below are selected from a list of 309 Experts worldwide ranked by ideXlab platform
Derek M. Steinbacher - One of the best experts on this subject based on the ideXlab platform.
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reduced three dimensional nasal airway volume in Treacher Collins Syndrome and its association with craniofacial morphology
Plastic and Reconstructive Surgery, 2015Co-Authors: Antonio J Forte, John A. Persing, Nivaldo Alonso, Nicholas L. Berlin, Derek M. SteinbacherAbstract:BACKGROUND Airway insufficiency decreases quality of life and may be life threatening in patients with Treacher Collins Syndrome. The authors calculated the three-dimensional nasal airway volume in patients with Treacher Collins Syndrome to identify correlations between nasal airway volume and craniofacial morphology and provide guidance for surgical planning. METHODS Thirty nonoperated patients with Treacher Collins Syndrome were compared with 35 unaffected age- and gender-matched controls. Anatomic variables of the cranial base, the maxilla complex, and internal diameters of nasal airway were compared between patients and control subjects using three-dimensional craniometric analyses. In the Treacher Collins group, the relation of craniofacial morphology to nasal airway volume was assessed separately. Statistical analyses were performed using independent sample t tests and Pearson correlation coefficient analyses. RESULTS Nasal airway volume was decreased 38.6 percent in patients with Treacher Collins Syndrome relative to controls (p = 0.001). A positive correlation of maxillary position and nasal airway volume was shown in Treacher Collins patients (r = +0.463, p = 0.013). Maxillary, nasal bone, and orbitale width were also positively correlated with nasal airway volume (r = +0.582, p = 0.001; r = +0.408, p = 0.035; and r = +0.677, p < 0.001, respectively). Shortened internal diameters of the nasal airway all positively correlated with nasal airway volume. CONCLUSIONS Nasal airway volume is reduced in patients with Treacher Collins Syndrome. Reduced projection of the maxilla and transverse maxillary deficiency are correlated with reduced nasal airway volume and are primarily responsible for obstruction of the nasal airway. CLINICAL QUESTION/LEVEL OF EVIDENCE Risk, II.
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Reduced three-dimensional airway volume is a function of skeletal dysmorphology in Treacher Collins Syndrome.
Plastic and reconstructive surgery, 2015Co-Authors: Antonio J Forte, John A. Persing, Nivaldo Alonso, Nicholas L. Berlin, Derek M. SteinbacherAbstract:BACKGROUND Children with Treacher Collins Syndrome frequently present with obstructive sleep apnea and respiratory insufficiency. The purpose of this study was to three-dimensionally calculate upper airway volume in these patients. The authors also assessed the correlation between bony craniofacial morphology and spatial position with airway volume. METHODS Thirty Treacher Collins Syndrome patients who have not been operated on were compared with a sample of 35 age- and sex-matched unaffected controls. Upper airway volume was stratified into retropalatal and retroglossal aspects. Three-dimensional craniometric findings were compared between patients and controls. Among Treacher Collins Syndrome patients, the authors assessed the relationship of craniofacial morphology and spatial positioning to airway volume. Statistical analyses included independent sample t tests and Pearson correlation coefficient analyses. RESULTS Decreased total upper airway volume (p = 0.034) was found in the Treacher Collins Syndrome group, attributable primarily to a decrease in retroglossal airway volume (p = 0.009). Regarding three-dimensional craniometric variables, maxillary and mandibular length (r = 0.76, p < 0.001; and r = 0.68, p < 0.001), and the anterior and posterior cranial base (r = 0.61, p < 0.001; and r = 0.77, p < 0.001) were positively correlated with airway volume in Treacher Collins Syndrome patients. Transverse internal diameters of the upper airway were also positively correlated with airway volume (r = 0.635, p = 0.001; and r = 0.511, p = 0.006); however, no correlation was shown for the anteroposterior airway diameters. CONCLUSIONS Three-dimensional analysis revealed diminished upper airway volume in Treacher Collins Syndrome, with the retroglossal region being the most severely constricted. Maxillomandibular dysmorphologies, and their relationship to the cranial base, correlated significantly with airway findings.
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Treacher Collins Syndrome
Seminars in plastic surgery, 2012Co-Authors: Christopher C. Chang, Derek M. SteinbacherAbstract:Treacher Collins Syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins Syndrome.
Marie Vincent - One of the best experts on this subject based on the ideXlab platform.
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Treacher Collins Syndrome: a clinical and molecular study based on a large series of patients
Genetics in medicine : official journal of the American College of Medical Genetics, 2015Co-Authors: Marie Vincent, David Genevieve, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, Dominique Martin-coignard, Christine Coubes, Albert David, Stanislas Lyonnet, Catheline VilainAbstract:Treacher Collins Syndrome: a clinical and molecular study based on a large series of patients
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
Genetics in Medicine, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Genet Med 16 9, 720–724. Purpose: Treacher Collins Syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1 mutations are observed in ~80% of the patients and are inherited in an autosomal dominant manner. Recently, two other genes have been reported in G, p.Leu55Val). This mutation is localized in a region encoding the dimerization domain of the RNA polymerase. It is supposed that this mutation impairs RNA polymerase, resulting in a lower amount of mature dimeric ribosomes. A functional analysis of the transcripts of TCOF1 by real-time quantitative reverse transcription–polymerase chain reaction was performed in the first family, demonstrating a 50% reduction in the index case, compatible with this hypothesis. Conclusion: This is the first report of POLR1D mutation being responsible for an autosomal recessive inherited Treacher Collins Syndrome. These results reinforce the concept of genetic heterogeneity of Treacher Collins Syndrome and underline the importance of combining clinical expertise and familial molecular analyses for appropriate genetic counseling.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
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Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins Syndrome with intellectual disability
European Journal of Human Genetics, 2014Co-Authors: Marie Vincent, Alain Verloes, Corinne Collet, Laetitia Lambert, Christian Herlin, Catherine Blanchet, Elodie Sanchez, Séverine Drunat, Jacqueline Vigneron, Jean-louis LaplancheAbstract:Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins Syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene. Usually patients with Treacher Collins Syndrome do not present with intellectual disability. Recently, the EFTUD2 gene was identified in patients with mandibulofacial dysostosis associated with microcephaly, intellectual disability and esophageal atresia. We report on two patients presenting with mandibulofacial dysostosis characteristic of Treacher Collins Syndrome, but associated with unexpected intellectual disability, due to a large deletion encompassing several genes including the TCOF1 gene. We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins Syndrome.
Maria-rita Passos-bueno - One of the best experts on this subject based on the ideXlab platform.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
Genetics in Medicine, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Genet Med 16 9, 720–724. Purpose: Treacher Collins Syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1 mutations are observed in ~80% of the patients and are inherited in an autosomal dominant manner. Recently, two other genes have been reported in G, p.Leu55Val). This mutation is localized in a region encoding the dimerization domain of the RNA polymerase. It is supposed that this mutation impairs RNA polymerase, resulting in a lower amount of mature dimeric ribosomes. A functional analysis of the transcripts of TCOF1 by real-time quantitative reverse transcription–polymerase chain reaction was performed in the first family, demonstrating a 50% reduction in the index case, compatible with this hypothesis. Conclusion: This is the first report of POLR1D mutation being responsible for an autosomal recessive inherited Treacher Collins Syndrome. These results reinforce the concept of genetic heterogeneity of Treacher Collins Syndrome and underline the importance of combining clinical expertise and familial molecular analyses for appropriate genetic counseling.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
Elodie Sanchez - One of the best experts on this subject based on the ideXlab platform.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
Genetics in Medicine, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Genet Med 16 9, 720–724. Purpose: Treacher Collins Syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1 mutations are observed in ~80% of the patients and are inherited in an autosomal dominant manner. Recently, two other genes have been reported in G, p.Leu55Val). This mutation is localized in a region encoding the dimerization domain of the RNA polymerase. It is supposed that this mutation impairs RNA polymerase, resulting in a lower amount of mature dimeric ribosomes. A functional analysis of the transcripts of TCOF1 by real-time quantitative reverse transcription–polymerase chain reaction was performed in the first family, demonstrating a 50% reduction in the index case, compatible with this hypothesis. Conclusion: This is the first report of POLR1D mutation being responsible for an autosomal recessive inherited Treacher Collins Syndrome. These results reinforce the concept of genetic heterogeneity of Treacher Collins Syndrome and underline the importance of combining clinical expertise and familial molecular analyses for appropriate genetic counseling.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
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Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins Syndrome with intellectual disability
European Journal of Human Genetics, 2014Co-Authors: Marie Vincent, Alain Verloes, Corinne Collet, Laetitia Lambert, Christian Herlin, Catherine Blanchet, Elodie Sanchez, Séverine Drunat, Jacqueline Vigneron, Jean-louis LaplancheAbstract:Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins Syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene. Usually patients with Treacher Collins Syndrome do not present with intellectual disability. Recently, the EFTUD2 gene was identified in patients with mandibulofacial dysostosis associated with microcephaly, intellectual disability and esophageal atresia. We report on two patients presenting with mandibulofacial dysostosis characteristic of Treacher Collins Syndrome, but associated with unexpected intellectual disability, due to a large deletion encompassing several genes including the TCOF1 gene. We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins Syndrome.
Corinne Collet - One of the best experts on this subject based on the ideXlab platform.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
Genetics in Medicine, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Genet Med 16 9, 720–724. Purpose: Treacher Collins Syndrome is a mandibulofacial dysostosis caused by mutations in genes involved in ribosome biogenesis and synthesis. TCOF1 mutations are observed in ~80% of the patients and are inherited in an autosomal dominant manner. Recently, two other genes have been reported in G, p.Leu55Val). This mutation is localized in a region encoding the dimerization domain of the RNA polymerase. It is supposed that this mutation impairs RNA polymerase, resulting in a lower amount of mature dimeric ribosomes. A functional analysis of the transcripts of TCOF1 by real-time quantitative reverse transcription–polymerase chain reaction was performed in the first family, demonstrating a 50% reduction in the index case, compatible with this hypothesis. Conclusion: This is the first report of POLR1D mutation being responsible for an autosomal recessive inherited Treacher Collins Syndrome. These results reinforce the concept of genetic heterogeneity of Treacher Collins Syndrome and underline the importance of combining clinical expertise and familial molecular analyses for appropriate genetic counseling.
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Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics, 2014Co-Authors: Elise Schaefer, Marie Vincent, Corinne Collet, Elodie Sanchez, David Genevieve, Dietmar R. Lohmann, Chantal Bolender, Marie-madeleine Eliot, Gudrun Nürnberg, Maria-rita Passos-buenoAbstract:Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins Syndrome
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Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins Syndrome with intellectual disability
European Journal of Human Genetics, 2014Co-Authors: Marie Vincent, Alain Verloes, Corinne Collet, Laetitia Lambert, Christian Herlin, Catherine Blanchet, Elodie Sanchez, Séverine Drunat, Jacqueline Vigneron, Jean-louis LaplancheAbstract:Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins Syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene. Usually patients with Treacher Collins Syndrome do not present with intellectual disability. Recently, the EFTUD2 gene was identified in patients with mandibulofacial dysostosis associated with microcephaly, intellectual disability and esophageal atresia. We report on two patients presenting with mandibulofacial dysostosis characteristic of Treacher Collins Syndrome, but associated with unexpected intellectual disability, due to a large deletion encompassing several genes including the TCOF1 gene. We discuss the involvement of the other deleted genes such as CAMK2A or SLC6A7 in the cognitive development delay of the patients reported, and we propose the systematic investigation for 5q32 deletion when intellectual disability is associated with Treacher Collins Syndrome.
