Impact on bone of an estrogen receptor-alpha gene loss of function mutation.

ABSTRACT:

Context

The kindred described is the only known instance of a germ line loss of function mutation of estrogen receptor (ER)-alpha.

Objective

Our objective was to assess the impact of a loss of function mutation in the ER-alpha gene on histomorphometry, bone volumetric density, bone geometry and skeletal growth, and ER-alpha heterozygosity on spine density and adult height in an extended pedigree.

Design and participants

A longitudinal follow-up of the propositus with homozygous loss of function mutation of ER-alpha and single contact evaluation of the kindred were performed.

Main outcome measures

Iliac crest bone biopsy and peripheral quantitative computed tomography of propositus with serial measures of areal spine bone mineral density (aBMD) by dual-energy x-

SUBMITTER: Smith EP 

PROVIDER: S-EPMC2729204 | biostudies-literature | 2008 Aug

REPOSITORIES: biostudies-literature