Article
Analysis of a non-lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons.
Clinical genetics - 1 Oct 2023
Kaufmann Lukas, Pilic Johannes, Auinger Lisa, Mayer Anna-Lena, Blatterer Jasmin, Semmler-Bruckner Johann, Abbas Safdar, Rehman Khurram, Ayaz Muhammad, Graier Wolfgang F, Malli Roland, Petek Erwin, Wagner Klaus, Al Kaissi Ali, Khan Muzammil Ahmad, Windpassinger Christian
Abstract excerpt
Restrictive dermopathy (RD) is a lethal condition caused by biallelic loss-of-function mutations in ZMPSTE24, whereas mutations preserving residual enzymatic activity of the ZMPSTE24 protein lead to the milder mandibuloacral dysplasia with type B lipodystrophy (MADB) phenotype. Remarkably, we identified a homozygous, presumably loss-of-function mutation in ZMPSTE24 [c.28_29insA, p.(Leu10Tyrfs*37)] in two...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.