title: Frame shift mutations of the ZMPSTE24 gene in two siblings with restrictive dermopathy.
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.
authors.affiliation: aDepartment 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.
authors.forename: Aušra
authors.initials: A
authors.lastname: Matulevičienė
authors.forename: Raimonda
authors.initials: R
authors.lastname: Meškienė
authors.forename: Aušra
authors.initials: A
authors.lastname: Morkūnienė
authors.forename: Laima
authors.initials: L
authors.lastname: Ambrozaitytė
authors.forename: Raimundas
authors.initials: R
authors.lastname: Meškauskas
authors.forename: Rasa
authors.initials: R
authors.lastname: Garunkštienė
authors.forename: Nijolė
authors.initials: N
authors.lastname: Drazdienė
authors.forename: Algirdas
authors.initials: A
authors.lastname: Utkus
authors.forename: Vaidutis
authors.initials: V
authors.lastname: Kučinskas
mesh_terms: D003286:Contracture / Q000151:congenital* / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008666:Metalloendopeptidases / Q000235:genetics*; D035781:Siblings; D012868:Skin Abnormalities / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D008666:Metalloendopeptidases; C120130:ZMPSTE24 protein, human