Locus heterogeneity of autosomal dominant osteopetrosis (ADO)

Kenneth E. White, Daniel L. Koller, I. Takács, Kenneth A. Buckwalter, Tatiana Foroud, Michael J. Econs

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Autosomal dominant osteopetrosis (ADO), is a heritable disorder that results from a failure of osteoclast-mediated bone resorption. The etiology of the disorder is unknown. A previous linkage study of one Danish family mapped an ADO locus to chromosome 1p21. We have studied two families from Indiana with ADO. The present study sought to determine if the ADO gene in these families was also linked to chromosome 1p21. We used six microsatellite repeat markers, which demonstrated linkage to the 1p21 ADO locus in the Danish study, to perform linkage analysis in the new kindreds. Multipoint analysis excluded linkage of ADO to chromosome 1p21 (logarithm of the odds score <-7.00) in both families. In addition, no haplotype segregated with the disorder in either family. In summary, the present investigation ruled out linkage of ADO to chromosome 1p21 in two families from Indiana. Our results demonstrate that there is locus heterogeneity of this disorder; therefore, mutations in at least two different genes can give rise to the ADO phenotype.

Original languageEnglish
Pages (from-to)1047-1051
Number of pages5
JournalJournal of Clinical Endocrinology and Metabolism
Volume84
Issue number3
Publication statusPublished - 1999

Fingerprint

Osteopetrosis
Chromosomes
Genes
Microsatellite Repeats
Bone
Dominant Genes
Osteoclasts
Bone Resorption
Haplotypes
Phenotype
Mutation

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology, Diabetes and Metabolism

Cite this

White, K. E., Koller, D. L., Takács, I., Buckwalter, K. A., Foroud, T., & Econs, M. J. (1999). Locus heterogeneity of autosomal dominant osteopetrosis (ADO). Journal of Clinical Endocrinology and Metabolism, 84(3), 1047-1051.

Locus heterogeneity of autosomal dominant osteopetrosis (ADO). / White, Kenneth E.; Koller, Daniel L.; Takács, I.; Buckwalter, Kenneth A.; Foroud, Tatiana; Econs, Michael J.

In: Journal of Clinical Endocrinology and Metabolism, Vol. 84, No. 3, 1999, p. 1047-1051.

Research output: Contribution to journalArticle

White, KE, Koller, DL, Takács, I, Buckwalter, KA, Foroud, T & Econs, MJ 1999, 'Locus heterogeneity of autosomal dominant osteopetrosis (ADO)', Journal of Clinical Endocrinology and Metabolism, vol. 84, no. 3, pp. 1047-1051.
White KE, Koller DL, Takács I, Buckwalter KA, Foroud T, Econs MJ. Locus heterogeneity of autosomal dominant osteopetrosis (ADO). Journal of Clinical Endocrinology and Metabolism. 1999;84(3):1047-1051.
White, Kenneth E. ; Koller, Daniel L. ; Takács, I. ; Buckwalter, Kenneth A. ; Foroud, Tatiana ; Econs, Michael J. / Locus heterogeneity of autosomal dominant osteopetrosis (ADO). In: Journal of Clinical Endocrinology and Metabolism. 1999 ; Vol. 84, No. 3. pp. 1047-1051.
@article{8c200fa471ac4926a2ed0a18beca8cf5,
title = "Locus heterogeneity of autosomal dominant osteopetrosis (ADO)",
abstract = "Autosomal dominant osteopetrosis (ADO), is a heritable disorder that results from a failure of osteoclast-mediated bone resorption. The etiology of the disorder is unknown. A previous linkage study of one Danish family mapped an ADO locus to chromosome 1p21. We have studied two families from Indiana with ADO. The present study sought to determine if the ADO gene in these families was also linked to chromosome 1p21. We used six microsatellite repeat markers, which demonstrated linkage to the 1p21 ADO locus in the Danish study, to perform linkage analysis in the new kindreds. Multipoint analysis excluded linkage of ADO to chromosome 1p21 (logarithm of the odds score <-7.00) in both families. In addition, no haplotype segregated with the disorder in either family. In summary, the present investigation ruled out linkage of ADO to chromosome 1p21 in two families from Indiana. Our results demonstrate that there is locus heterogeneity of this disorder; therefore, mutations in at least two different genes can give rise to the ADO phenotype.",
author = "White, {Kenneth E.} and Koller, {Daniel L.} and I. Tak{\'a}cs and Buckwalter, {Kenneth A.} and Tatiana Foroud and Econs, {Michael J.}",
year = "1999",
language = "English",
volume = "84",
pages = "1047--1051",
journal = "Journal of Clinical Endocrinology and Metabolism",
issn = "0021-972X",
publisher = "The Endocrine Society",
number = "3",

}

TY - JOUR

T1 - Locus heterogeneity of autosomal dominant osteopetrosis (ADO)

AU - White, Kenneth E.

AU - Koller, Daniel L.

AU - Takács, I.

AU - Buckwalter, Kenneth A.

AU - Foroud, Tatiana

AU - Econs, Michael J.

PY - 1999

Y1 - 1999

N2 - Autosomal dominant osteopetrosis (ADO), is a heritable disorder that results from a failure of osteoclast-mediated bone resorption. The etiology of the disorder is unknown. A previous linkage study of one Danish family mapped an ADO locus to chromosome 1p21. We have studied two families from Indiana with ADO. The present study sought to determine if the ADO gene in these families was also linked to chromosome 1p21. We used six microsatellite repeat markers, which demonstrated linkage to the 1p21 ADO locus in the Danish study, to perform linkage analysis in the new kindreds. Multipoint analysis excluded linkage of ADO to chromosome 1p21 (logarithm of the odds score <-7.00) in both families. In addition, no haplotype segregated with the disorder in either family. In summary, the present investigation ruled out linkage of ADO to chromosome 1p21 in two families from Indiana. Our results demonstrate that there is locus heterogeneity of this disorder; therefore, mutations in at least two different genes can give rise to the ADO phenotype.

AB - Autosomal dominant osteopetrosis (ADO), is a heritable disorder that results from a failure of osteoclast-mediated bone resorption. The etiology of the disorder is unknown. A previous linkage study of one Danish family mapped an ADO locus to chromosome 1p21. We have studied two families from Indiana with ADO. The present study sought to determine if the ADO gene in these families was also linked to chromosome 1p21. We used six microsatellite repeat markers, which demonstrated linkage to the 1p21 ADO locus in the Danish study, to perform linkage analysis in the new kindreds. Multipoint analysis excluded linkage of ADO to chromosome 1p21 (logarithm of the odds score <-7.00) in both families. In addition, no haplotype segregated with the disorder in either family. In summary, the present investigation ruled out linkage of ADO to chromosome 1p21 in two families from Indiana. Our results demonstrate that there is locus heterogeneity of this disorder; therefore, mutations in at least two different genes can give rise to the ADO phenotype.

UR - http://www.scopus.com/inward/record.url?scp=0033059325&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033059325&partnerID=8YFLogxK

M3 - Article

C2 - 10084593

AN - SCOPUS:0033059325

VL - 84

SP - 1047

EP - 1051

JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

SN - 0021-972X

IS - 3

ER -