Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression.
Chelsea LowtherMarsha SpeevakChristine M ArmourElaine S GohGail E GrahamChumei LiSusan ZeesmanMalgorzata J M NowaczykLee-Anne SchultzAntonella MorraRobert NicolsonPeter BikangagaDawa SamdupMostafa ZaazouKerry BoydJack H JungVictoria SiuManjulata RajguruSharan GoobieMark A TarnopolskyChitra PrasadPaul T DickAsmaa S HussainMargreet WalingaRenske G ReijengaMatthew GazzelloneAnath C LionelChristian R MarshallStephen W SchererDimitri J StavropoulosElizabeth McCreadyGregory CostainPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2016)
The results support the importance of exons near the 5' end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes.Genet Med 19 1, 53-61.