Disorders

Lethal Restrictive Dermopathy, ZMPSTE24-Related

Synonym(s): Hyperkeratosis-Contracture Syndrome, ZMPSTE24-Related, Lethal Tight Skin Contracture Syndrome, ZMPSTE24-Related

OMIM

Gene	Locus	Protein
ZMPSTE24	1p34	CAAX prenyl protease 1 homolog

Laboratory	Test Method	Prenatal	Carrier *
Center for Human Genetics - University of Regensburg, Hehr Laboratory - Regensburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
Maastricht University Medical Centre, Clinical Genomics - Maastricht, Netherlands
Medical Neurogenetics - Atlanta, GA, USA
Novogenia - Mondsee, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Royal Devon and Exeter Hospital, Department of Molecular Genetics - Exeter, Great Britain
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Sequence analysis of select exons • Targeted mutation analysis
University of Chicago, Genetic Services Laboratory - Chicago, IL, USA
University of Greifswald, Institute of Human Genetics - Greifswald, Germany

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.