Article
An exceptional biallelic N-terminal frame shift mutation in ZMPSTE24 leads to non-lethal progeria due to possible utilization of a downstream alternative start codon.
Gene - 30 Jul 2022
Schaflinger Erich, Blatterer Jasmin, Khan Aiman Saeed, Kaufmann Lukas, Auinger Lisa, Tatrai Benjamin, Abbasi Sumra Wajid, Zeeshan Ali Muhammad, Abbasi Ansar Ahmad, Al Kaissi Ali, Petek Erwin, Wagner Klaus, Ahmad Khan Muzammil, Windpassinger Christian
Abstract excerpt
Biallelic mutations in ZMPSTE24 are known to be associated with autosomal recessive mandibuloacral dysplasia with type B lipodystrophy (MADB) and lethal restrictive dermopathy (RD), respectively. Disease manifestation is depending on the remaining enzyme activity of the mutated ZMPSTE24 protein. To date, complete loss of function has exclusively been reported in RD cases. In this study, we identified a novel...
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