The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
Abstract
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 different heterozygous splicing mutations in the LMNA gene, leading to the production and accumulation of truncated Prelamin A. In other patients, a single nucleotide insertion was identified in ZMPSTE24. This variation is located in a homopolymeric repeat of thymines and introduces a premature termination codon. ZMPSTE24 encodes an endoprotease essential for the post-translational cleavage of the Lamin A precursor and the production of mature Lamin A. However, the autosomal recessive inheritance of RD suggested that a further molecular defect was present either in the second ZMPSTE24 allele or in another gene involved in Lamin A processing. Here, we report new findings in RD linked to ZMPSTE24 mutations. Ten RD patients were analyzed including seven from a previous series and three novel patients. All were found to be either homozygous or compound heterozygous for ZMPSTE24 mutations. We report three novel 'null' mutations as well as the recurrent thymine insertion. In all cases, we find a complete absence of both ZMPSTE24 and mature Lamin A associated with Prelamin A accumulation. Thus, RD is either a primary or a secondary laminopathy, caused by dominant de novo LMNA mutations or, more frequently, recessive null ZMPSTE24 mutations, most of which lie in a mutation hotspot within exon 9. The accumulation of truncated or normal length Prelamin A is, therefore, a shared pathophysiological feature in recessive and dominant RD. These findings have an important impact on our knowledge of the pathophysiology in Progeria and related disorders and will help direct the development of therapeutic approaches.
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Cites
Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
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Lamin a truncation in Hutchinson-Gilford progeria
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Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
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Lamin proteins form an internal nucleoskeleton as well as a peripheral lamina in human cells
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Cited by
Genomic instability in laminopathy-based premature aging
Liu, B., Wang, J., Chan, K. M., Tjia, W. M., Deng, W., Guan, X., Huang, J.-D., Li, K. M., Chau, P. Y., Chen, D. J., et al. (2005) · Nature Medicine · doi:10.1038/nm1266 · Cited by 650
Self-citationNuclear Lamins: Laminopathies and Their Role in Premature Ageing
Broers, J. L. V., Ramaekers, F. C. S., Bonne, G., Yaou, R. B., & Hutchison, C. J. (2006) · Physiological Reviews · doi:10.1152/physrev.00047.2005 · Cited by 578
Human laminopathies: nuclei gone genetically awry
Capell, B. C., & Collins, F. S. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1906 · Cited by 527
Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation
Varela, I., Cadiñanos, J., Pendás, A. M., Gutiérrez-Fernández, A., Folgueras, A. R., Sánchez, L. M., Zhou, Z., Rodríguez, F. J., Stewart, C. L., Vega, J. A., et al. (2005) · Nature · doi:10.1038/nature04019 · Cited by 466
Self-citationSplicing-directed therapy in a new mouse model of human accelerated aging
Osorio, F. G., Navarro, C. L., Cadiñanos, J., López-Mejía, I. C., Quirós, P. M., Bartoli, C., Rivera, J., Tazi, J., Guzmán, G., Varela, I., et al. (2011) · Science Translational Medicine · doi:10.1126/scitranslmed.3002847 · Cited by 432
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Metadata
- Authors
- Navarro, C. L., Cadiñanos, J., Sandre-Giovannoli, A. D., Bernard, R., Courrier, S., Boccaccio, I., Boyer, A., Kleijer, W. J., Wagner, A., Giuliano, F., Beemer, F. A., Freije, J. M., Cau, P., Hennekam, R. C. M., López-Otín, C., Badens, C., & Lévy, N.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-04-20
- Volume
- 14
- Issue
- 11
- Pages
- 1503-1513
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2101410699
- Cited by
- 300
- References
- 28
- FWCI
- 9.33
- Type
- journal article
- Language
- en
- Open access
- closed
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- Navarro, C. L., Cadiñanos, J., Sandre-Giovannoli, A. D., Bernard, R., Courrier, S., Boccaccio, I., Boyer, A., Kleijer, W. J., Wagner, A., Giuliano, F., Beemer, F. A., Freije, J. M., Cau, P., Hennekam, R. C. M., López-Otín, C., Badens, C., & Lévy, N. (2005). Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddi159
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