Article
SUFU haploinsufficiency causes a recognisable neurodevelopmental phenotype at the mild end of the Joubert syndrome spectrum.
Journal of medical genetics - 1 Sept 2022
Serpieri Valentina, D'Abrusco Fulvio, Dempsey Jennifer C, Cheng Yong-Han Hank, Arrigoni Filippo, Baker Janice, Battini Roberta, Bertini Enrico Silvio, Borgatti Renato, Christman Angela K, Curry Cynthia, D'Arrigo Stefano, Fluss Joel, Freilinger Michael, Gana Simone, Ishak Gisele E, Leuzzi Vincenzo, Loucks Hailey, Manti Filippo, Mendelsohn Nancy, Merlini Laura, Miller Caitlin V, Muhammad Ansar, Nuovo Sara, Romaniello Romina, Schmidt Wolfgang, Signorini Sabrina, Siliquini Sabrina, Szczałuba Krzysztof, Vasco Gessica, Wilson Meredith, Zanni Ginevra, Boltshauser Eugen, Doherty Dan, Valente Enza Maria
Abstract excerpt
BACKGROUND: Joubert syndrome (JS) is a recessively inherited ciliopathy characterised by congenital ocular motor apraxia (COMA), developmental delay (DD), intellectual disability, ataxia, multiorgan involvement, and a unique cerebellar and brainstem malformation. Over 40 JS-associated genes are known with a diagnostic yield of 60%-75%.In 2018, we reported homozygous hypomorphic missense variants of the SUFU gene...
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