Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Michael D FountainDavid S OlesonMegan E RechLara SegebrechtJill V HunterJohn M McCarthyPhilip J LupoManuel HoltgreweRocio MoranJill A RosenfeldBertrand IsidorCédric Le CaignecMargarita S SaenzRobert C PedersenThomas M MorganJean P PfotenhauerFan XiaWeimin BiSung-Hae L KangAnkita PatelIan D KrantzSarah E RaibleWendy SmithIngrid CristianErin TortiJane JuusolaFrancisca MillanIngrid M WentzensenRichard E PersonSébastien KüryStéphane BézieauKévin UguenClaude FérecArnold MunnichMieke van HaelstKlaske D LichtenbeltKoen van GassenTanner HagelstromAditi ChawlaDenise L PerryRyan J TaftMarilyn JonesDiane Masser-FryeDavid DymentSunita VenkateswaranChumei LiLuis F EscobarDenise HornRebecca C SpillmannLoren PeñaJolanta WierzbaTim M StromIlaria ParentiFrank J KaiserNadja EhmkeChristian Patrick SchaafPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
The consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.