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Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
Bott LC, Forouhan M, Lieto M, Sala AJ, Ellerington R, Johnson JO, Speciale AA, Criscuolo C, Filla A, Chitayat D, Alkhunaizi E, Shannon P, Nemeth AH; Italian Undiagnosed Diseases Network; Angelucci F, Lim WF, Striano P, Zara F, Helbig I, Muona M, Courage C, Lehesjoki AE, Berkovic SF; ATPase Consortium; Fischbeck KH, Brancati F, Morimoto RI, Wood MJA, Rinaldi C. Bott LC, et al. Brain Commun. 2021 Oct 18;3(4):fcab245. doi: 10.1093/braincomms/fcab245. eCollection 2021. Brain Commun. 2021. PMID: 34909687 Free PMC article.
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis.
Fortugno P, Monetta R, Belli M, Botti E, Angelucci F, Palmerini MG, Nottola SA, De Luca C, Ceccarini M, Salvatore M, Bianchi L, Macioce P, Teson M, Ricci F; Italian Undiagnosed Diseases Network; Macchiarelli G, Didona B, Costanzo A, Castiglia D, Brancati F. Fortugno P, et al. Hum Mol Genet. 2022 Aug 17;31(15):2535-2547. doi: 10.1093/hmg/ddac046. Hum Mol Genet. 2022. PMID: 35220430
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay.
Laboy Cintron D, Muir AM, Scott A, McDonald M, Monaghan KG, Santiago-Sim T, Wentzensen IM, De Luca C; Italian Undiagnosed Diseases Network; Brancati F, Harris DJ, Goueli C, Stottmann R, Prada CE, Biderman Waberski M, Mefford HC. Laboy Cintron D, et al. HGG Adv. 2021 Nov 25;3(1):100072. doi: 10.1016/j.xhgg.2021.100072. eCollection 2022 Jan 13. HGG Adv. 2021. PMID: 35047857 Free PMC article.
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway.
Asif M, Kaygusuz E, Shinawi M, Nickelsen A, Hsieh TC, Wagle P, Budde BS, Hochscherf J, Abdullah U, Höning S, Nienberg C, Lindenblatt D, Noegel AA, Altmüller J, Thiele H, Motameny S, Fleischer N, Segal I, Pais L, Tinschert S, Samra NN, Savatt JM, Rudy NL, De Luca C; Italian Undiagnosed Diseases Network; Paola Fortugno, White SM, Krawitz P, Hurst ACE, Niefind K, Jose J, Brancati F, Nürnberg P, Hussain MS. Asif M, et al. HGG Adv. 2022 Apr 18;3(3):100111. doi: 10.1016/j.xhgg.2022.100111. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35571680 Free PMC article.