A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

doi:10.1002/ajmg.a.63335

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Article

A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.

American journal of medical genetics. Part A - 1 Sept 2023

Saadi Abdelkrim, Navarro Claire, Ozalp Ozge, Lourenco Charles Marques, Fayek Racha, Da Silva Nathalie, Chaouch Athmane, Benahmed Meryem, Kubisch Christian, Munnich Arnold, Lévy Nicolas, Roll Patrice, Pacha Lamia Ali, Chaouch Malika, Lessel Davor, De Sandre-Giovannoli Annachiara

Abstract excerpt

Atypical progeroid syndromes (APS) are premature aging syndromes caused by pathogenic LMNA missense variants, associated with unaltered expression levels of lamins A and C, without accumulation of wild-type or deleted prelamin A isoforms, as observed in Hutchinson-Gilford progeria syndrome (HGPS) or HGPS-like syndromes. A specific LMNA missense variant, (p.Thr528Met), was previously identified in a compound...

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PMID: 37387251
DOI: 10.1002/ajmg.a.63335

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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