2015
MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Bronicki L, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Rivière J, Isidor B, Gan G, Francannet C, Gunel M, Jones J, Gleeson J, Willems M, Mandel J, Stevenson R, Friez M, Aylsworth A. MG-112 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Journal Of Medical Genetics 2015, 52: a2. DOI: 10.1136/jmedgenet-2015-103577.6.Peer-Reviewed Original ResearchDual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) geneDNA sequence variationExome next-generation sequencingLarge chromosomal deletionsDown syndrome critical regionIntellectual disability phenotypeIdentification of mutationsWhole-exome next-generation sequencingIntellectual disabilitySyndrome critical regionComparative genomic hybridization analysisNext-generation sequencingSyndromic intellectual disabilityChromosomal rearrangementsMultiple genesSequence variationGenomic hybridization analysisRecurrent clinical featuresTypes of mutationsDYRK1AHybridization analysisArray comparative genomic hybridization analysisChromosomal deletionsPoor weight gainDisability phenotype
2007
A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K, Bydon M, Bayrakli F, Ercan-Sencicek AG, Bayri Y, Mason C, DiLuna ML, Seashore M, Bronen R, Lifton RP, State M, Gunel M. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation. Journal Of Neurosurgery 2007, 107: 495-9. PMID: 18154020, DOI: 10.3171/ped-07/12/495.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleCarrier ProteinsChild, PreschoolChromosome DeletionChromosomes, Human, Pair 7Craniofacial AbnormalitiesDNAFemaleGene DosageHemangioma, Cavernous, Central Nervous SystemHeterozygoteHumansKruppel-Like Transcription FactorsNerve Tissue ProteinsOligonucleotide Array Sequence AnalysisReverse Transcriptase Polymerase Chain ReactionSyndromeZinc Finger Protein Gli3ConceptsGreig cephalopolysyndactyly syndromeCerebral cavernous malformationsDeleterious genetic variantsComparative genome hybridization analysisChromosome 7pArray-based CGHGene GLI3Distinct genesMultiple genesGenetic analysisGenomic DNANovel syndromeGenomic lesionsChromosome 7Contiguous gene syndromeQuantitative real-time polymerase chain reactionQuantitative RT-PCRGli3Hybridization analysis