Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Ilaria MannucciNghi D P DangHannes HuberJaclyn B MurryJeff AbramsonThorsten AlthoffSiddharth BankaGareth BaynamDavid BeardenAna Beleza-MeirelesPaul J BenkeSiren BerlandTatjana BierhalsFrederic BilanLaurence A BindoffGeir Julius BraathenØyvind L BuskJirat ChenbhanichJonas DeneckeLuis F EscobarCaroline EstesJulie FleischerDaniel GroepperCharlotte A HaaxmaMaja HempelYolanda Holler-ManaganGunnar HougeAdam JacksonLaura KelloggBoris KerenCatherine Kiraly-BorriCornelia KrausChristian KubischGwenael Le GuyaderUlf W LjungbladLeslie Manace BrenmanJulian A Martinez-AgostoMatthew MightDavid T MillerKelly Q MinksBillur MoghaddamCaroline NavaStanley F NelsonJohn M ParantTrine PrescottFarrah RajabiHanitra RandrianaivoSimone F ReiterJanneke Schuurs-HoeijmakersPerry B ShiehAnne SlavotinekSarah SmithsonAlexander P A StegmannKinga TomczakKristian TvetenJun WangJordan H WhitlockChristiane ZweierKirsty McWalterJane JuusolaFabiola Quintero-RiveraUtz FischerNan Cher YeoHans-Jürgen KreienkampDavor LesselPublished in: Genome medicine (2021)
Our study highlights the usefulness of social media to define novel Mendelian disorders and exemplifies how functional analyses accompanied by clinical and genetic findings can define clinically distinct subtypes for ultra-rare disorders. Such approaches require close interdisciplinary collaboration between families/legal representatives of the affected individuals, clinicians, molecular genetics diagnostic laboratories, and research laboratories.