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Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.
D'Abrusco F, Serpieri V, Taccagni CM, Garau J, Cattaneo L, Boggioni M, Gana S, Battini R, Bertini E, Zanni G, Boltshauser E, Borgatti R, Romaniello R, Signorini S, Leuzzi V, Caputi C, Manti F, D'Arrigo S, De Laurentiis A, Graziano C, Lemke JR, Morelli F, Petković Ramadža D, Sirchia F, Giorgio E, Valente EM. D'Abrusco F, et al. Among authors: manti f. Eur J Hum Genet. 2024 Oct 11. doi: 10.1038/s41431-024-01703-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39394465
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Serpieri V, D'Abrusco F, Dempsey JC, Cheng YH, Arrigoni F, Baker J, Battini R, Bertini ES, Borgatti R, Christman AK, Curry C, D'Arrigo S, Fluss J, Freilinger M, Gana S, Ishak GE, Leuzzi V, Loucks H, Manti F, Mendelsohn N, Merlini L, Miller CV, Muhammad A, Nuovo S, Romaniello R, Schmidt W, Signorini S, Siliquini S, Szczałuba K, Vasco G, Wilson M, Zanni G, Boltshauser E, Doherty D, Valente EM; University of Washington Center for Mendelian Genomics (UW-CMG) group. Serpieri V, et al. Among authors: manti f. J Med Genet. 2022 Sep;59(9):888-894. doi: 10.1136/jmedgenet-2021-108114. Epub 2021 Oct 21. J Med Genet. 2022. PMID: 34675124 Free PMC article.
Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
D'Abrusco F, Arrigoni F, Serpieri V, Romaniello R, Caputi C, Manti F, Jocic-Jakubi B, Lucarelli E, Panzeri E, Bonaglia MC, Chiapparini L, Pichiecchio A, Pinelli L, Righini A, Leuzzi V, Borgatti R, Valente EM. D'Abrusco F, et al. Among authors: manti f. Cerebellum. 2022 Dec;21(6):1144-1150. doi: 10.1007/s12311-021-01350-8. Epub 2021 Nov 30. Cerebellum. 2022. PMID: 34846692
92 results