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1. Age and sex prevalence estimate of Joubert syndrome in Italy

Author

Nuovo, Sara, Bacigalupo, Ilaria, Ginevrino, Monia, Battini, Roberta, Bertini, Enrico, Borgatti, Renato, Casella, Antonella, Micalizzi, Alessia, Nardella, Marta, Romaniello, Romina, Serpieri, Valentina, Zanni, Ginevra, Valente, Enza Maria, Vanacore, Nicola, JS Italian Study Group, Patrizia, Accorsi, Enrico, Alfei, Elena, Andreucci, Gianluigi, Ardissino, Emanuela, Avola, Rita, Barone, Francesco, Benedicenti, Stefania, Bigoni, Loredana, Boccone, Bonati, Maria T., Stefania, Bova, Marilena, Briguglio, Silvana, Briuglia, Olga, Calabrese, Cantalupo, Gaetano, Gianluca, Caridi, Monica, Cazzagon, Celle, Maria E., Cilio, Maria R., Giangennaro, Coppola, Adele, D’Amico, Stefano, D’Arrigo, Daniele De Brasi, Maria Fulvia de Leva, Ennio Del Giudice, Marilena Carmela Di Giacomo, Maria Lucia Di Sabato, Bruno, Dallapiccola, Raffaella, Devescovi, Maria Cristina Digilio, Ilaria, Donati, Donati, Maria A., Dotti, Maria T., Francesco, Emma, Antonella, Fabretto, Elisa, Fazzi, Alessandra, Ferlini, Alessandro, Ferraris, Giovanni Battista Ferrero, Anna, Ficcadenti, Simona, Fiori, Rita, Fischetto, Elena, Freri, Livia, Garavelli, Mattia, Gentile, Lucio, Giordano, Donatella, Greco, Claudia, Izzi, Vincenzo, Leuzzi, Elisabetta, Lucarelli, Silvia, Majore, Mancardi, Maria M., Francesca, Mari, Giuseppina, Marra, Laura, Mazzanti, Daniela, Melis, Emanuele, Micaglio, Marisol, Mirabelli-Badenier, Isabella, Moroni, Nardo, Nardocci, Margherita, Nosadini, Simona, Orcesi, Giovanni, Pagani, Chiara, Pantaleoni, Francesco Papadia Papadia, Pasquale, Parisi, Maria Grazia Patricelli, Cinzia, Peruzzi, Alice, Pessagno, Maria, Piccione, Antonella, Pini, Tiziana, Pisano, Livia, Pisciotta, Marzia, Pollazzon, Francesca, Rivieri, Alfonso, Romano, Corrado, Romano, Leonardo, Salviati, Carmelo Damiano Salpietro, Margherita, Santucci, Emanuela, Scarano, Barbara, Scelsa, Alberto, Sensi, Marco, Seri, Sabrina, Signorini, Margherita, Silengo, Simonati, Alessandro, Fabio, Sirchia, Luigina, Spaccini, Franco, Stanzial, Gilda, Stringini, Eva, Trevisson, Antonella, Trivelli, Vera, Uliana, Graziella, Uziel, Gessica, Vasco, Marina, Vascotto, Giuseppina, Vitiello, Federica, Zibordi, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, and UCL - (SLuc) Service de neurologie pédiatrique

Subjects
IQR=interquartile range, 0301 basic medicine, Proband, Male, JS=Joubert syndrome, Prevalence, CI=confidence interval, CI = confidence interval, 0302 clinical medicine, Cerebellum, Epidemiology, Databases, Genetic, JS = Joubert syndrome, Medicine, Eye Abnormalities, Young adult, Age of Onset, Child, education.field_of_study, Age Factors, High-Throughput Nucleotide Sequencing, Kidney Diseases, Cystic, Middle Aged, Italy, Child, Preschool, Joubert syndrome, Italy, Cohort, Kidney Diseases, Female, MTS = molar tooth sign, Abnormalities, Multiple, NGS=next-generation sequencing, Adult, medicine.medical_specialty, Adolescent, IQR = interquartile range, NGS = next-generation sequencing, Population, Retina, Databases, Cystic, 03 medical and health sciences, Young Adult, Sex Factors, Genetic, Joubert syndrome, Humans, Abnormalities, Multiple, Infant, Preschool, CI=confidence interval, IQR=interquartile range, JS=Joubert syndrome, MTS=molar tooth sign, NGS=next-generation sequencing, education, business.industry, MTS=molar tooth sign, Confidence interval, 030104 developmental biology, Neurology (clinical), Age of onset, business, 030217 neurology & neurosurgery, Demography
Abstract

ObjectiveTo estimate the prevalence of Joubert syndrome (JS) in Italy applying standards of descriptive epidemiology and to provide a molecular characterization of the described patient cohort.MethodsWe enrolled all patients with a neuroradiologically confirmed diagnosis of JS who resided in Italy in 2018 and calculated age and sex prevalence, assuming a Poisson distribution. We also investigated the correlation between proband chronological age and age at diagnosis and performed next-generation sequencing (NGS) analysis on probands' DNA when available.ResultsWe identified 284 patients with JS: the overall, female- and male-specific population-based prevalence rates were 0.47 (95% confidence interval [CI] 0.41–0.53), 0.41 (95% CI 0.32–0.49), and 0.53 (95% CI 0.45–0.61) per 100,000 population, respectively. When we considered only patients in the age range from 0 to 19 years, the corresponding population-based prevalence rates rose to 1.7 (95% CI 1.49–1.97), 1.62 (95% CI 1.31–1.99), and 1.80 (95% CI 1.49–2.18) per 100,000 population. NGS analysis allowed identifying the genetic cause in 131 of 219 screened probands. Age at diagnosis was available for 223 probands, with a mean of 6.67 ± 8.10 years, and showed a statistically significant linear relationship with chronological age (r2 = 0.79; p < 0.001).ConclusionsWe estimated for the first time the age and sex prevalence of JS in Italy and investigated the patients’ genetic profile. The obtained population-based prevalence rate was ≈10 times higher than that available in literature for children population.

Published
2020

2. 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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