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1. The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

Author

Ellen, Hanson, Raphael, Bernier, Ken, Porche, Frank I, Jackson, Robin P, Goin-Kochel, LeeAnne Green, Snyder, Anne V, Snow, Arianne Stevens, Wallace, Katherine L, Campe, Yuan, Zhang, Qixuan, Chen, Debra, D'Angelo, Andres, Moreno-De-Luca, Patrick T, Orr, K B, Boomer, David W, Evans, Stephen, Kanne, Leandra, Berry, Fiona K, Miller, Jennifer, Olson, Elliot, Sherr, Christa L, Martin, David H, Ledbetter, John E, Spiro, Wendy K, Chung, and J, Wenegrat

Subjects
Pediatrics, Autism, Developmental Disabilities, Intelligence, Medical and Health Sciences, Cognition, Heritability of autism, Autism spectrum disorder, Child, Pediatric, Psychiatry, screening and diagnosis, education.field_of_study, Intelligence quotient, Mental Disorders, Biological Sciences, Phenotype, Detection, Mental Health, 16p11.2 Deletion, Child, Preschool, Chromosomal region, Chromosome Deletion, Psychology, Human, 4.2 Evaluation of markers and technologies, Heterozygote, medicine.medical_specialty, Adolescent, Simons Variation in Individuals Project Consortium, Intellectual and Developmental Disabilities (IDD), Population, Psychiatric diagnosis, Chromosomes, Article, Young Adult, Clinical Research, Behavioral and Social Science, Genetics, medicine, Humans, Developmental disability, Genetic Testing, Preschool, education, Biological Psychiatry, Pair 16, Psychology and Cognitive Sciences, medicine.disease, Brain Disorders, Chromosomes, Human, Pair 16
Abstract

Background Deletion of the recurrent ~600 kb BP4-BP5 chromosomal region 16p11.2 has been associated with a wide range of neurodevelopmental outcomes. Methods To clarify the phenotype of 16p11.2 deletion, we examined the psychiatric and developmental presentation of predominantly clinically referred individuals, with a particular emphasis on broader autism phenotype characteristics in individuals with recurrent ~600 kb chromosome 16p11.2 deletions. Using an extensive standardized assessment battery across three clinical sites, 85 individuals with the 16p11.2 deletion and 153 familial control subjects were evaluated for symptom presentation and clinical diagnosis. Results Individuals with the 16p11.2 deletion presented with a high frequency of psychiatric and developmental disorders (>90%). The most commonly diagnosed conditions were developmental coordination disorder, phonologic processing disorder, expressive and receptive language disorders (71% of individuals >3 years old with a speech and language–related disorder), and autism spectrum disorder. Individuals with the 16p11.2 deletion not meeting diagnostic criteria for autism spectrum disorder had a significantly higher prevalence of autism-related characteristics compared with the familial noncarrier control group. Individuals with the 16p11.2 deletion had a range of intellectual ability, but IQ scores were 26 points lower than noncarrier family members on average. Conclusions Clinically referred individuals with the 16p11.2 deletion have high rates of psychiatric and developmental disorders and provide a genetically well-defined group to study the emergence of developmental difficulties, particularly associated with the broader autism phenotype.

Published
2015
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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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