Related Experiment Video
Updated: Apr 3, 2026

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
Published on: January 17, 2025
Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy
Aušra Matulevičienė1, Raimonda Meškienė, Aušra Morkūnienė
1aDepartment of Human and Medical Genetics bCentre of Neonatology, Clinics of Children's Diseases, Faculty of Medicine, Vilnius University cNational Centre of Pathology dCentre of Neonatology, Children's Hospital, Affiliate of Vilnius University Hospital Santariškių Klinikos, Vilnius, Lithuania.
Abstract:
Restrictive dermopathy (RD) is a rare lethal autosomal recessive genodermatosis, characterized by abnormally rigid skin with prominent superficial vasculature, erosions and epidermal hyperkeratosis, dysplastic clavicles, joint contractures, mouth fixed in the 'O' position, small pinched nose, and neonatal death. Mutations of ZMPSTE24 and LMNA genes are reported as the causes of RD, with those of ZMPSTE24 being more prevalent. Here, we report on a familial c.50delA (p.Lys17Serfs*21) mutation of the ZMPSTE24 gene, causing RD in two siblings.
Related Concept Videos
Abnormal Proliferation
Cytoskeletal Linker Proteins - Plakins
Pleiotropy
Mutations

