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Your search keyword '"Elliot, Sherr"' showing total 3 results
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3 results on '"Elliot, Sherr"'

1. Neurodevelopmental Disorders, Causes, and Consequences

Author

Elliot Sherr

Subjects
Generality, medicine.medical_specialty, Neurology, Biology, medicine.disease, Bioinformatics, Biomarker, Neurodevelopmental disorder, Homogeneous, Intellectual disability, medicine, Autism, Psychiatry, Exome sequencing
Abstract

In the overlap between the fields of neurology, psychiatry, and pediatrics, it may be hard to find a term with as much generality as neurodevelopmental disorders (NDD). Not surprisingly, these disorders have a number of different but possibly overlapping etiologies. New genome-wide discovery platforms, including chromosomal microarrays and whole-exome sequencing, have led to the discovery of many new genes and have pointed to the importance of de novo mutations functioning in an autosomal dominant fashion as key causes of this group of conditions, perhaps accounting for 50% of these patients. Animal models (particularly rodent) have made significant progress in understanding some of the biological mechanisms behind these disorders, but progress in the development of novel pharmacological interventions has been more challenging. These advances in genetics have also pointed to the importance of testing patient cohorts that are etiologically homogeneous to make progress in imaging and biomarker development. This convergence of tools and well-characterized patient cohorts will undoubtedly lead to rapid expansion in our understanding of NDD and suggests that real advances in disease-altering treatments may not be far off.

Published
2016
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2. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Author

Pascale de Lonlay, Ana Moreira, Clement Donahue, Graziella Uziel, Karin Dias, Silvana Briuglia, Saevar Halldorsson, Francesca Faravelli, William B. Dobyns, Bernard Stuart, Berta Rodriguez, Alberto Permunian, Laila Bastaki, Enrico Bertini, Lihadh Al Gazali, Michel Koenig, Richard J. Leventer, Saunder Bernes, Hillary Raynes, Bruno Dallapiccola, Chong Ae Kim, Jean Messer, Renaud Touraine, Carla Moco, Alessandro Simonati, Enza Maria Valente, Kathryn J. Swoboda, Mustafa Akcakus, Gustavo Maegawa, Lucio Giordano, Sinan Comu, Lorena Travaglini, Cynthia Daugherty, Shubha R. Phadke, Alex Magee, Sofia Kitsiou Tzeli, Elliot Sherr, Marina Michelson, Maha S. Zaki, Kenton R. Holden, Luciana Rigoli, Henry Sanchez, Ignacio Pascual-Castroviejo, Stefania Maria Bova, Robert P. Cruse, Alessandra Ferlini, Maria Alice Donati, Andreas R. Janecke, Rudy Van Coster, Amy Goldstein, David Nicholl, Mirjam M. de Jong, Melissa Lees, Clotilde Lagier-Tourenne, Loredana Boccone, Itxaso Marti, Peter Ludvigsson, Lorenzo Pinelli, Joanne Milisa, [No Value] Ahmad, Joseph G. Gleeson, Carmelo Salpietro, Terence D. Sanger, Elysa DeMarco, Dorit Lev, Alice Abdel-Aleem, Bruria Ben-Zeev, Asma A. Al-Tawari, Francesco Emma, Eco Finsecke, Pasquale Parisi, Roberta Battini, László Sztriha, Padraic Grattan-Smith, Maria Roberta Cilio, Matloob Azam, C. Geoffrey Woods, Elena Procopio, S. Romano, Hülya Kayserili, Martino Ruggieri, Christopher P. Bennett, Roshan Koul, Susana Quijano-Roy, Darryl C. De Vivo, Dave Viskochil, G. Montagna, Anna Rajab, Jennifer L. Silhavy, M. Gentile, Dean Sarco, Gaetano Tortorella, Jane A. Hurst, Chiara Pantaleoni, Kalpathy S. Krishnamoorthy, Patrizia Accorsi, Eugen Boltshauser, James Caldwell, Anna Maria Laverda, Daria Riva, Francesco Brancati, Trudy McKanna, Marilu Di Sabato, Jonina Johannsdottir, Marc D'Hooghe, Gian Marco Ghiggeri, David G. Brooks, Clara Barbot, Stefania Bigoni, Heike Philippi, Alison Seward, Gianluca Caridi, D. Zablocka, Alain Verloes, Aldon E. Clark, Wendy K. Chung, Rita Fischetto, Ghada M H Abdel-Salam, Silvia Battaglia, Raoul C.M. Hennekam, Bernard L. Maria, Romaine Schubert, Christopher A. Walsh, Tomas E. Gallager, Giuseppe Barrano, Stefano D'Arrigo, and Vincenzo Leuzzi

Subjects
Adult, Male, Cerebellum, DNA Mutational Analysis, RPGRIP1L, Biology, Kidney, medicine.disease_cause, Article, Joubert syndrome, NO, Cohort Studies, Exon, Nephronophthisis, Genetics, medicine, Humans, Genetic Testing, Genetics (clinical), Adaptor Proteins, Signal Transducing, Genetic testing, Family Health, Mutation, medicine.diagnostic_test, Joubert syndrome-related disorders, Syndrome, joubert syndrome-related disorders, molar tooth sign, nephronophthisis, rpgrip1l, medicine.disease, Magnetic Resonance Imaging, Phenotype, Joubert Syndrome Related Disorders, medicine.anatomical_structure, Child, Preschool, Female, Molar tooth sign, Brain Stem
Abstract

Joubert syndrome-related disorders (JSRDs) are autosomal recessive pleiotropic conditions sharing a peculiar cerebellar and brainstem malformation known as the 'molar tooth sign' (MTS). Recently, mutations in a novel ciliary gene, RPGRIP1L, have been shown to cause both JSRDs and Meckel-Gruber syndrome. We searched for RPGRIP1L mutations in 120 patients with proven MTS and phenotypes representative of all JSRD clinical subgroups. Two homozygous mutations, the previously reported p.T615P in exon 15 and the novel c.2268_2269delA in exon 16, were detected in 2 of 16 families with cerebello-renal presentation ( approximately 12%). Conversely, no pathogenic changes were found in patients with other JSRD phenotypes, suggesting that RPGRIP1L mutations are largely confined to the cerebello-renal subgroup, while they overall represent a rare cause of JSRD (

Published
2008

3. AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Author

Valente, Em, Brancati, F, Silhavy, Jl, Castori, M, Marsh, Se, Barrano, G, Bertini, E, Boltshauser, E, Zaki, Ms, Abdel Aleem, A, Abdel Salam GM, Bellacchio, E, Battini, R, Cruse, Rp, Dobyns, Wb, Krishnamoorthy, Ks, Lagier Tourenne, C, Magee, A, Pascual Castroviejo, I, SALPIETRO DAMIANO, Carmelo, Sarco, D, Richard, Leventer, Padraic Grattan Smith, Andreas, Janecke, Marc, D’Hooghe, Rudy Van Coster, Karin, Dias, Carla, Moco, Ana, Moreira, Chong Ae Kim, Gustavo, Maegawa, Itxaso, Marti, Susana Quijano Roy, Alain, Verloes, Renaud, Touraine, Miche, Bernard, Stuart, Dorit, Lev, Bruria Ben Zeev, Rita, Fischetto, Mattia, Gentile, Lucio, Giordano, Loredana, Boccone, Martino, Ruggieri, Stefania, Bigoni, Maria Alide Donati, Elena, Procopio, Gianluca, Caridi, Francesca, Faravelli, Gianmarco, Ghiggeri, Briuglia, Silvana, Gaetano, Tortorella, Stefano, D’Arrigo, Chiara, Pantaleoni, Daria, Riva, Graziella, Uziel, Stefania, Bova, Elisa, Fazzi, Sabrina, Signorini, Maria Roberta Cilio, Marilu` Di Sabato, Francesco, Emma, Vincenzo, Leuzzi, Pasquale, Parisi, Alessandro, Simonati, de Jong, Mirjam M., Matloob, Azam, Berta, Rodriguez, Hulya, Kayserili, Lihadh Al Gazali, Laszlo, Sztriha, David, Nicholl, Geoffrey Woods, C., Raoul, Hennekam, Saunder, Bernes, Henry, Sanchez, Clark, Aldon E., Elysa, Demarco, Clement, Donahue, Elliot, Sherr, Jin, Hahn, Terence, D, Sanger, Gallager H, Tomas E., Cynthia, Daugherty, Walsh, Christopher A., Trudy, Mckanna, Joanne, Milisa, Chung, Wendy K., De Vivo, Darryl C., Hillary, Raynes, Romaine, Schubert, Alison, Seward, Brooks, David G., Amy, Goldstein, James, Caldwell, Eco, Finsecke, Kenton, Holden, Swobod, Kathryn J., Dave Viskochil, Dallapiccola, B, and Gleeson, Jg

Subjects
Male, Models, Molecular, Developmental Disabilities, DNA Mutational Analysis, Chromosome Disorders, Gene mutation, medicine.disease_cause, Gene Frequency, Models, Missense mutation, Adaptor Proteins, Signal Transducing, Adolescent, Adult, Animals, Brain Diseases, Brain Stem, Child, Child, Preschool, Family Health, Female, Humans, Infant, Magnetic Resonance Imaging, Polymorphism, Genetic, Mutation, Neuroscience (all), Genetics, Adaptor Proteins, Joubert syndrome, Joubert Syndrome Related Disorders, AHI1 gene, mutation, Neurology, Consanguinity, Biology, Genetic, medicine, Polymorphism, Preschool, Gene, Allele frequency, Signal Transducing, Molecular, medicine.disease, Adaptor Proteins, Vesicular Transport, Cerebellar vermis, Neurology (clinical)
Abstract

Author(s): Valente, E M; Brancat, F; Silhavy, J L; Castori, M; March, S E; Barrano, G; Bertini, E; Boltshauser, E; Zaki, M S; Abdel-Aleem, A; Abdel-Salam, GMH; Bellacchlo, E; Battini, R; Cruse, R P; Dobyns, W B; Krishnamoorthy, K S; Lagier-Tourenne, C; Magee, A; Pascual-Castroviejo, I; Salpietro, C D; Sarco, D; Dallapiccola, B; Gleeson, J G | Abstract: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. Methods: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. Results: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. Interpretation AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.

Published
2006

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