ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Ajay X ThomasNichole LinkLaurie A RobakGail Demmler-HarrisonEmily C PaoAudrey E SquireSavannah MichelsJulie S CohenAnne ComiPaolo PronteraAlberto Verrotti di PianellaGiuseppe Di CaraLivia GaravelliStefano Giuseppe CaraffiCarlo FuscoRoberta ZuntiniKendall C ParksElliott H SherrMais O HashemSateesh MaddirevulaFowzan Sami AlkurayaIsphana A F ContractarJennifer E NeilChristopher A WalshHugo J BellenHsiao-Tuan ChaoRobin D ClarkGhayda M MirzaaPublished in: Annals of clinical and translational neurology (2022)
Deleterious variants in the ANKLE2 gene cause a unique MIC syndrome characterized by congenital or postnatal MIC, a broad range of structural brain abnormalities, and skin pigmentary changes. Thorough functional characterization has identified shared pathogenic mechanisms between ANKLE2-related MIC and congenital Zika virus infection. This study further highlights the importance of a thorough diagnostic evaluation including molecular diagnostic testing in individuals with MIC.