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Article

A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.

American journal of medical genetics. Part A - 1 Aug 2026

Kındış Erdem, Varol Ömer

Abstract excerpt

Restrictive Dermopathy (RD, OMIM #275210) is an ultra-rare, lethal genodermatosis caused by defects in lamins and related proteins. RD is caused by biallelic pathogenic variants in ZMPSTE24, which encodes zinc metallopeptidase ZMPSTE24, an enzyme essential for processing prelamin A, the precursor of lamin A. While null variants leading to a total loss of prelamin A processing have been related to neonatally...

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Source

Identifiers

PMID: 41877632
DOI: 10.1002/ajmg.a.70149

Genes

ZMPSTE24

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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A Case of Restrictive Dermopathy With Atypical Cardiac Anomalies and a Novel ZMPSTE24 Variant.PMID 41877632Read ↗

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Restrictive Dermopathy in Neonates.Semantic proximity Read ↗

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

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

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 ↗

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