Original ArticleHomozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy
Under an Elsevier user license
open archive
Keywords
FATP4 protein
lamin A
nuclear envelope
STE24 protein
Cited by (0)
After this paper was accepted, we found a novel ZMPSTE24 nonsense mutation, c.691G>T, predicted to encode p.Glu231X, in both parents of an affected child from southern India. DNA from the child was not available, but we consider this to be a pathogenic mutation.
Navarro et al. recently published a paper (Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Hum Mol. Genet 14:1503–1513, 2005) showing that both alleles of ZMPSTE24 are in fact mutated in their patients with restrictive dermopathy; these patients were previously reported to carry only heterozygous mutations. Based on these new findings, they have withdrawn their hypothesis of digenic inheritance.
Copyright © 2005 The Society for Investigative Dermatology, Inc. All rights reserved.