2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Molecular Case Studies 2016, 2: a001008. PMID: 27626066, PMCID: PMC5002930, DOI: 10.1101/mcs.a001008.Peer-Reviewed Original ResearchRapid-onset dystonia-parkinsonismCommand auditory hallucinationsNovel clinical presentationHemiplegia of childhoodChildhood-onset schizophreniaNovel de novo mutationYr of ageMild motor delayWhole-exome sequencingChromosomal microarray analysisNeuron-specific isoformSodium-potassium pumpClinical presentationDystonia-parkinsonismBehavioral regressionAuditory hallucinationsMotor delayNeuronal functionDe novo mutationsHeterozygous mutationsMutation c.ATP1A3Novo mutationsMicroarray analysisPast functional studies
2015
Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome
Chen L, Chen B, Leng W, Lui X, Wu Q, Ouyang X, Liang Z. Identification of a novel de novo GATA3 mutation in a patient with HDR syndrome. Journal Of International Medical Research 2015, 43: 718-724. PMID: 26268891, DOI: 10.1177/0300060515591065.Peer-Reviewed Original ResearchConceptsHDR syndromeUrea nitrogen levelsNovel de novo mutationRenal dysplasia (HDR) syndromeHaploinsufficiency of GATA3Serum creatinineIntracranial calcificationsLimb twitchesGATA3 mutationsSensorineural deafnessDysplasia syndromeDe novo mutationsSyndromeGATA3 genePatientsPremature stop codonNovo mutationsDeafnessFurther evidenceFrameshift mutationExon 2MutationsHyperphosphataemiaHypoparathyroidismProteinuria
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