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Article

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Human molecular genetics - 1 Jun 2005

Navarro Claire L, Cadiñanos Juan, De Sandre-Giovannoli Annachiara, Bernard Rafaëlle, Courrier Sébastien, Boccaccio Irène, Boyer Amandine, Kleijer Wim J, Wagner Anja, Giuliano Fabienne, Beemer Frits A, Freije Jose M, Cau Pierre, Hennekam Raoul C M, López-Otín Carlos, Badens Catherine, Lévy Nicolas

Abstract excerpt

Restrictive dermopathy (RD) is characterized by intrauterine growth retardation, tight and rigid skin with prominent superficial vessels, bone mineralization defects, dysplastic clavicles, arthrogryposis and early neonatal death. In two patients affected with RD, we recently reported two differen...

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Source

Identifiers

PMID: 15843403
DOI: 10.1093/hmg/ddi159

Genes

ZMPSTE24
LMNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15843403-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.PMID 15843403Read ↗

New ZMPSTE24 (FACE1) mutations in patients affected with restrictive dermopathy or related progeroid syndromes and mutation update.Semantic proximity Read ↗

Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.Semantic proximity Read ↗

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.Semantic proximity Read ↗

A newly identified splice site mutation in ZMPSTE24 causes restrictive dermopathy in the Middle East.Semantic proximity Read ↗

Novel frameshifting mutations of the ZMPSTE24 gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature.Semantic proximity Read ↗

P18 ZMPSTE24 variant with the lethal phenotype of restrictive dermopathy.Semantic proximity Read ↗

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.Semantic proximity Read ↗

Homozygous null mutations in ZMPSTE24 in restrictive dermopathy: evidence of genetic heterogeneity.Semantic proximity Read ↗

Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature.Semantic proximity Read ↗

A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.Semantic proximity Read ↗

A case of restrictive dermopathy with novel ZMPSTE24 gene mutation.Semantic proximity Read ↗

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.Semantic proximity Read ↗

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