Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent

Gavin Lucas; Lynne Hocking; Anna Daroszewska; T. Cundy; G. C. Nicholson; J. P. Walsh; W. D. Fraser; C. Meier; M. J. Hooper; S Ralston

doi:10.1359/JBMR.041106

Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent

Gavin Lucas, Lynne Hocking, Anna Daroszewska, T. Cundy, G. C. Nicholson, J. P. Walsh, W. D. Fraser, C. Meier, M. J. Hooper, S Ralston

Research output: Contribution to journal › Article › peer-review

41 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	227-231
Number of pages	5
Journal	Journal of Bone and Mineral Research
Volume	20
Issue number	2
Early online date	16 Nov 2004
DOIs	https://doi.org/10.1359/JBMR.041106
Publication status	Published - Feb 2005

Keywords

Paget's disease of bone
genetic
SQSTM1
haplotype
founder effect
genetic-heterogeneity
familial aggregation
chromosome 18Q
identification
Netherlands
prevalence
linkage
loci

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10.1359/JBMR.041106

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Lucas, G., Hocking, L., Daroszewska, A., Cundy, T., Nicholson, G. C., Walsh, J. P., Fraser, W. D., Meier, C., Hooper, M. J., & Ralston, S. (2005). Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent. Journal of Bone and Mineral Research, 20(2), 227-231. https://doi.org/10.1359/JBMR.041106

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keywords = "Paget's disease of bone, genetic, SQSTM1, haplotype, founder effect, genetic-heterogeneity, familial aggregation, chromosome 18Q, identification, Netherlands, prevalence, linkage, loci",

author = "Gavin Lucas and Lynne Hocking and Anna Daroszewska and T. Cundy and Nicholson, {G. C.} and Walsh, {J. P.} and Fraser, {W. D.} and C. Meier and Hooper, {M. J.} and S Ralston",

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AU - Daroszewska, Anna

AU - Cundy, T.

AU - Nicholson, G. C.

AU - Walsh, J. P.

AU - Fraser, W. D.

AU - Meier, C.

AU - Hooper, M. J.

AU - Ralston, S

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KW - Paget's disease of bone

KW - genetic

KW - SQSTM1

KW - haplotype

KW - founder effect

KW - genetic-heterogeneity

KW - familial aggregation

KW - chromosome 18Q

KW - identification

KW - Netherlands

KW - prevalence

KW - linkage

KW - loci

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DO - 10.1359/JBMR.041106

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Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: Evidence for a Founder Effect in Patients of British Descent

Abstract

Keywords

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