2018
Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature
Xu Q, Li CY, Wang Y, Li HP, Wu BB, Jiang YH, Xu X. Role of PUF60 gene in Verheij syndrome: a case report of the first Chinese Han patient with a de novo pathogenic variant and review of the literature. BMC Medical Genomics 2018, 11: 92. PMID: 30352594, PMCID: PMC6199733, DOI: 10.1186/s12920-018-0421-3.Peer-Reviewed Original ResearchConceptsChinese Han patientsHan patientsNovo pathogenic variantsClinical whole exome sequencingDysmorphic facial featuresNovo nonsense variantWhole-exome sequencingRare microdeletion syndromeClinical featuresCase reportSpinal anomaliesPathogenic variantsRelated disordersGrowth retardationPUF60 geneConclusionsOur findingsSyndromeExome sequencingNonsense variantMicrodeletion syndromeIntellectual disabilityPatientsFunction mutationsPUF60Chromosome 8q24.3
2015
De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features
Tanaka AJ, Cho MT, Retterer K, Jones JR, Nowak C, Douglas J, Jiang YH, McConkie-Rosell A, Schaefer GB, Kaylor J, Rahman OA, Telegrafi A, Friedman B, Douglas G, Monaghan KG, Chung WK. De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features. Molecular Case Studies 2015, 2: a000661. PMID: 27148580, PMCID: PMC4849844, DOI: 10.1101/mcs.a000661.Peer-Reviewed Original ResearchDysmorphic facial featuresZinc finger proteinGlobal developmental delayDevelopmental delayIntellectual disabilityFinger proteinSignificant global developmental delayMicrotubule attachmentChromosome alignmentCell divisionDe novo mutationsDe novo pathogenic variantsNovo pathogenic variantsCHAMP1Phosphoprotein 1De novoNovo mutationsUnrelated individualsFunction variantsPathogenic variantsBrain developmentMutations