2019
Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions
Atzmony L, Zaki TD, Antaya RJ, Choate KA. Phenotypic expansion of POFUT1 loss of function mutations in a disorder featuring segmental dyspigmentation with eczematous and folliculo‐centric lesions. American Journal Of Medical Genetics Part A 2019, 179: 2469-2473. PMID: 31566882, PMCID: PMC7914397, DOI: 10.1002/ajmg.a.61362.Peer-Reviewed Original ResearchConceptsDowling-Degos diseasePhenotypic expansionMosaic disordersFunction mutationsDistinct clinical presentationsSomatic copy-neutral lossGermline heterozygous mutationsWhole-exome sequencingClinical presentationEczematous plaquesFollicular papulesAffected skinSkin diseasesBlaschko's linesCopy-neutral lossHeterozygous mutationsReticulated hyperpigmentationExome sequencingNormal keratinocytesPostzygotic mutationDisordersExpression levelsSomatic mutationsLesionsKeratinocytes
2016
Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.
Eskin-Schwartz M, Basel-Vanagaite L, David M, Lagovsky I, Ben-Amitai D, Smirin-Yosef P, Atzmony L, Hodak E. Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis. Acta Dermato Venereologica 2016, 96: 885-887. PMID: 26984337, DOI: 10.2340/00015555-2405.Peer-Reviewed Original ResearchConceptsIntra-familial variationClinical phenotypeDisease onsetHLA-C*0602Multifactorial chronic inflammatory diseaseVariability of clinical presentationTime of disease onsetEarly disease onsetChronic inflammatory diseaseAffected family membersCARD14 geneClinical presentationCoding region polymorphismsActivating mutationsSeverely affected individualsPsoriatic phenotypePustular typesInflammatory diseasesPsoriasisCARD14Region polymorphismsDisease expressionCo-segregationDiseaseOnset