KLHL24 中的翻译起始再启动变异也可通过中间丝降解导致单纯型大疱性表皮松解症和扩张型心肌病。
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
机构信息
Departments of Cardiology, (Center for Blistering Diseases), University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Australia.
出版信息
Br J Dermatol. 2022 Dec;187(6):1045-1048. doi: 10.1111/bjd.21832. Epub 2022 Sep 9.
Abstract
This study shows that gain-of-function variants in KLHL24 causing EBS and DCM, do not only originate in the start-codon and suggest that any nonsense-inducing variant affecting nucleotides c.4_84 will likely cause the same effect on protein level and a similar potential lethal phenotype.
摘要
本研究表明，导致 EBS 和 DCM 的 KLHL24 功能获得性变异不仅起源于起始密码子，并提示任何影响核苷酸 c.4_84 的无义诱导变异都可能在蛋白质水平上产生相同的效果，并具有类似的潜在致死表型。
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