Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.

ABSTRACT:

Context

The gene for congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, CYP21A2, is flanked by the gene encoding tenascin-X (TNXB), a connective tissue extracellular matrix protein that has been linked to both autosomal dominant and autosomal recessive Ehlers-Danlos syndrome (EDS). A contiguous deletion of CYP21A2 and TNXB has been described.

Objective

The objective of the study was to determine the frequency and clinical significance of TNXB haploinsufficiency in CAH patients.

Design, setting, and participants

A total of 192 consecutive unrelated CAH patients being seen as part of an observational study at the National Institutes of Health Clinical Center (Bethesda, MD) were prospectively studied during 2006-2010. Patients were evaluated for clini

SUBMITTER: Merke DP 

PROVIDER: S-EPMC3565116 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature