Heterogeneity in Paget disease of the bone

Paget disease of the bone is a common skeletal disorder. Recently, a gene for Paget disease was localized to 18q with subsequent evidence for linkage heterogeneity. We report the identification and clinical characterization of a large pedigree of Paget disease and demonstrate that the Paget disease...

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Bibliographic Details
Published in:American journal of medical genetics 2000-06, Vol.92 (5), p.303-307
Main Authors: Nance, Martha A., Nuttall, Frank Q., Econs, Michael J., Lyles, Kenneth W., Viles, Kristi D., Vance, Jeffery M., Pericak-Vance, Margaret A., Speer, Marcy C.
Format: Article
Language:English
Subjects:
Adult
Aged
chromosome 18
Chromosomes, Human, Pair 18
Female
Genetic Heterogeneity
Genetic Linkage
heterogeneity
Humans
Male
Middle Aged
Osteitis Deformans - genetics
Paget disease
Pedigree
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Summary:Paget disease of the bone is a common skeletal disorder. Recently, a gene for Paget disease was localized to 18q with subsequent evidence for linkage heterogeneity. We report the identification and clinical characterization of a large pedigree of Paget disease and demonstrate that the Paget disease gene in this pedigree is not linked to the region on 18q, thus confirming linkage heterogeneity. Am J. Med. Genet. 92:303–307, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20000619)92:5<303::AID-AJMG2>3.0.CO;2-E