2024
Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E. Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene. JAMA Dermatology 2024, 160: 518-524. PMID: 38536168, PMCID: PMC10974685, DOI: 10.1001/jamadermatol.2024.0152.Peer-Reviewed Original ResearchConceptsSomatic variantsATP2A2 geneDeep sequencingResponse to environmental factorsCopy number variantsRestriction fragment length polymorphismLoss of heterozygosityWhole-exome sequencingChromosomal microarray analysisDarier's diseaseFragment length polymorphismPaired whole exome sequencingPathogenic germline variantsHeterozygous pathogenic germline variantsDD lesionsGenomic characteristicsGenetic analysisGenetic skin disordersGermline variantsSanger sequencingLength polymorphismSkin lesionsTransient lesionsHeterozygous variantsMicroarray analysis
2019
Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis
Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, Mirza FN, Yin E, Ko CJ, Leventhal JS, Choate KA. Second-Hit, Postzygotic PMVK and MVD Mutations in Linear Porokeratosis. JAMA Dermatology 2019, 155: 548-555. PMID: 30942823, PMCID: PMC6506890, DOI: 10.1001/jamadermatol.2019.0016.Peer-Reviewed Original ResearchConceptsLinear porokeratosisLesional skinWhole-exome sequencingAffected tissue samplesSomatic copy-neutral lossAcademic medical centerLines of BlaschkoSomatic mutationsT mutationNovel germline mutationPostzygotic somatic mutationsNovel somatic mutationsCoronoid lamellaBlood/saliva samplesGermline splice site mutationHistologic diagnosisHistologic examinationKeratotic papulesMedical CenterMAIN OUTCOMEAffected skinTherapeutic interventionsPorokeratosisWhorled configurationCopy-neutral loss