Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

I. Takács, Heather Cooper, David D. Weaver, Michael J. Econs

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Type II autosomal dominant osteopetrosis (ADO2) is an inherited disorder characterized by increased skeletal mass and characteristic abnormalities evident on radiography. Although previous investigators have described nonpenetrant individuals (carriers), it is not known whether carriers manifest subtle abnormalities. We hypothesized that ADO2 carriers would have an abnormality of osteoclast function that would lead to changes in bone mineral density (BMD), in serum tartrate-resistant acid phosphatase (TRAP), or in creatine kinase isoenzyme BB (CK-BB) levels that would permit carrier recognition. We identified a female carrier in a well-established ADO2 family and measured BMD, serum TRAP, and CK-BB concentrations. She had normal BMD, serum TRAP, and CK-BB concentrations. Thus, these measurements cannot be used to exclude carrier status in individuals who are seen for genetic counseling. However, measurements in other asymptotic carriers are necessary before concluding that these measurements are normal in all or most nonpenetrant individuals.

Original languageEnglish
Pages (from-to)9-12
Number of pages4
JournalAmerican Journal of Medical Genetics
Volume85
Issue number1
DOIs
Publication statusPublished - Jul 2 1999

Fingerprint

BB Form Creatine Kinase
Osteopetrosis
Bone Density
Isoenzymes
Serum
Genetic Counseling
Osteoclasts
Radiography
Research Personnel
Tartrate-Resistant Acid Phosphatase

Keywords

  • Autosomal dominant osteopetrosis type II (ADO2)
  • Bone mineral density (BMD)
  • Carrier
  • Creatine kinase isoenzyme BB (CK-BB)
  • Penetrance
  • Tartrate- resistant acid phosphatase (TRAP)

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier. / Takács, I.; Cooper, Heather; Weaver, David D.; Econs, Michael J.

In: American Journal of Medical Genetics, Vol. 85, No. 1, 02.07.1999, p. 9-12.

Research output: Contribution to journalArticle

Takács, I. ; Cooper, Heather ; Weaver, David D. ; Econs, Michael J. / Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier. In: American Journal of Medical Genetics. 1999 ; Vol. 85, No. 1. pp. 9-12.
@article{d66019d1fd8343958f9e69ad8ad987ba,
title = "Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier",
abstract = "Type II autosomal dominant osteopetrosis (ADO2) is an inherited disorder characterized by increased skeletal mass and characteristic abnormalities evident on radiography. Although previous investigators have described nonpenetrant individuals (carriers), it is not known whether carriers manifest subtle abnormalities. We hypothesized that ADO2 carriers would have an abnormality of osteoclast function that would lead to changes in bone mineral density (BMD), in serum tartrate-resistant acid phosphatase (TRAP), or in creatine kinase isoenzyme BB (CK-BB) levels that would permit carrier recognition. We identified a female carrier in a well-established ADO2 family and measured BMD, serum TRAP, and CK-BB concentrations. She had normal BMD, serum TRAP, and CK-BB concentrations. Thus, these measurements cannot be used to exclude carrier status in individuals who are seen for genetic counseling. However, measurements in other asymptotic carriers are necessary before concluding that these measurements are normal in all or most nonpenetrant individuals.",
keywords = "Autosomal dominant osteopetrosis type II (ADO2), Bone mineral density (BMD), Carrier, Creatine kinase isoenzyme BB (CK-BB), Penetrance, Tartrate- resistant acid phosphatase (TRAP)",
author = "I. Tak{\'a}cs and Heather Cooper and Weaver, {David D.} and Econs, {Michael J.}",
year = "1999",
month = "7",
day = "2",
doi = "10.1002/(SICI)1096-8628(19990702)85:1<9::AID-AJMG4>3.0.CO;2-3",
language = "English",
volume = "85",
pages = "9--12",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Bone mineral density and laboratory evaluation of a type II autosomal dominant osteopetrosis carrier

AU - Takács, I.

AU - Cooper, Heather

AU - Weaver, David D.

AU - Econs, Michael J.

PY - 1999/7/2

Y1 - 1999/7/2

N2 - Type II autosomal dominant osteopetrosis (ADO2) is an inherited disorder characterized by increased skeletal mass and characteristic abnormalities evident on radiography. Although previous investigators have described nonpenetrant individuals (carriers), it is not known whether carriers manifest subtle abnormalities. We hypothesized that ADO2 carriers would have an abnormality of osteoclast function that would lead to changes in bone mineral density (BMD), in serum tartrate-resistant acid phosphatase (TRAP), or in creatine kinase isoenzyme BB (CK-BB) levels that would permit carrier recognition. We identified a female carrier in a well-established ADO2 family and measured BMD, serum TRAP, and CK-BB concentrations. She had normal BMD, serum TRAP, and CK-BB concentrations. Thus, these measurements cannot be used to exclude carrier status in individuals who are seen for genetic counseling. However, measurements in other asymptotic carriers are necessary before concluding that these measurements are normal in all or most nonpenetrant individuals.

AB - Type II autosomal dominant osteopetrosis (ADO2) is an inherited disorder characterized by increased skeletal mass and characteristic abnormalities evident on radiography. Although previous investigators have described nonpenetrant individuals (carriers), it is not known whether carriers manifest subtle abnormalities. We hypothesized that ADO2 carriers would have an abnormality of osteoclast function that would lead to changes in bone mineral density (BMD), in serum tartrate-resistant acid phosphatase (TRAP), or in creatine kinase isoenzyme BB (CK-BB) levels that would permit carrier recognition. We identified a female carrier in a well-established ADO2 family and measured BMD, serum TRAP, and CK-BB concentrations. She had normal BMD, serum TRAP, and CK-BB concentrations. Thus, these measurements cannot be used to exclude carrier status in individuals who are seen for genetic counseling. However, measurements in other asymptotic carriers are necessary before concluding that these measurements are normal in all or most nonpenetrant individuals.

KW - Autosomal dominant osteopetrosis type II (ADO2)

KW - Bone mineral density (BMD)

KW - Carrier

KW - Creatine kinase isoenzyme BB (CK-BB)

KW - Penetrance

KW - Tartrate- resistant acid phosphatase (TRAP)

UR - http://www.scopus.com/inward/record.url?scp=0033516680&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0033516680&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1096-8628(19990702)85:1<9::AID-AJMG4>3.0.CO;2-3

DO - 10.1002/(SICI)1096-8628(19990702)85:1<9::AID-AJMG4>3.0.CO;2-3

M3 - Article

C2 - 10377007

AN - SCOPUS:0033516680

VL - 85

SP - 9

EP - 12

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 1

ER -