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Article

Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Oct 2003

Johnson-Pais Teresa L, Wisdom Julie H, Weldon Korri S, Cody Jannine D, Hansen Marc F, Singer Frederick R, Leach Robin J

Abstract excerpt

UNLABELLED: Mutations in Sequestosome 1 (SQSTM1) have been shown to segregate with familial Paget's disease of bone (PDB). We examined the coding sequence of SQSTM1 in five PDB pedigrees and found three novel mutations clustered around the C-terminal ubiquitin associated domain. Disruptions of the C-terminal domain of SQSTM1 seem to be a leading cause of familial PDB. INTRODUCTION: The characteristic features of...

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Source

Identifiers

PMID: 14584883
DOI: 10.1359/jbmr.2003.18.10.1748

Genes

SQSTM1

Variants

Provenance

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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Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.PMID 14584883Read ↗

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