Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent

Gavin J A Lucas, Lynne J Hocking, Anna Daroszewska, Tim Cundy, Geoff C Nicholson, John P Walsh, William D Fraser, Christian Meier, Michael J Hooper, Stuart H Ralston

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42 Citations (Scopus)


Mutations in the UBA domain of SQSTM1 are a common cause of Paget's disease of bone. Here we show that the most common disease-causing mutation (P392L) is carried on a shared haplotype, consistent with a founder effect and a common ancestral origin.
Original languageEnglish
Pages (from-to)227-231
Number of pages5
JournalJournal of Bone and Mineral Research
Issue number2
Publication statusPublished - Feb 2005


  • 3' Untranslated Regions
  • Adaptor Proteins, Signal Transducing
  • Alleles
  • DNA Primers
  • Exons
  • Female
  • Founder Effect
  • Genotype
  • Great Britain
  • Haplotypes
  • Humans
  • Introns
  • Male
  • Models, Genetic
  • Mutation
  • Odds Ratio
  • Osteitis Deformans
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic
  • Protein Structure, Tertiary
  • Proteins
  • Software
  • Ubiquitin

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