Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis
Boyden LM, Zhou J, Hu R, Zaki T, Loring E, Scott J, Traupe H, Paller AS, Lifton RP, Choate KA. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. American Journal Of Human Genetics 2020, 107: 158-163. PMID: 32516568, PMCID: PMC7332602, DOI: 10.1016/j.ajhg.2020.05.013.Peer-Reviewed Original ResearchConceptsDominant Mendelian disorderAutocatalytic cleavage siteMendelian disordersProtein residuesASPRV1Cleavage siteEpidermal differentiationMissense mutationsFilaggrin processingMutationsExome sequencingGenetic causeEpidermal barrier integrityEpidermal layerPalmoplantar keratodermaLamellar ichthyosisClose proximityPost‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas
Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA. Post‐zygotic ACTB mutations underlie congenital smooth muscle hamartomas. Journal Of Cutaneous Pathology 2020, 47: 681-685. PMID: 32170967, PMCID: PMC7943230, DOI: 10.1111/cup.13683.Peer-Reviewed Original ResearchConceptsCongenital smooth muscle hamartomaSmooth muscle hamartomaBecker's nevusMuscle hamartomaBecker nevus syndromeDirect sequencingHistopathological featuresHistopathological overlapBenign lesionsMosaic disordersPhenotypic spectrumNeviUnaffected tissueAffected tissuesHamartomaPost-zygotic mutationsHemihypertrophyEnrichment assayTissueMutationsACTB gene