English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia

Morava, É., Kárteszi, J., Weisenbach, J., Caliebe, A., Mundlos, S., & Méhes, K. (2002). Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics, 161(11), 619-622.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B7F-C Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8B80-6
Genre: Journal Article

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Morava, Éva, Author
Kárteszi, Judit, Author
Weisenbach, János, Author
Caliebe, Almuth, Author
Mundlos, Stefan1, Author              
Méhes, Károly, Author
Affiliations:
1Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Content

show
hide
Free keywords: alkaline phosphatase, cleidocranial dysplasia, hypophosphatasia, pyridoxal-5-phosphate
 Abstract: Abstract. Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant skeletal dysplasia characterised by hypoplastic clavicles, patent fontanelles, short stature, tooth anomalies and other variable skeletal changes. Different mutations of the RUNX2/CBFA1 gene (MIM 600211) have been detected in patients with CCD. We investigated a mother and daughter with features of CCD presenting with reduced plasma alkaline phosphatase activity, increased urinary phosphoethanolamine excretion and decreased bone density. The latter findings were suggestive of hypophophatasia but mutation analysis showed no mutation in the tissue-nonspecific alkaline phosphatase gene (TNSALP; MIM 171760). However, a heterozygous mutation (Arg169Pro caused by nucleotide change 506G>C) was detected in the RUNX2 gene. Metabolic alterations gradually improved in both mother and daughter but bone-specific alkaline phosphatase remained low (less than 30% of normal) and mild phosphoethanolaminuria persisted. Recent studies in the Cbfa1 knock-out mouse showed decreased expression of alkaline phosphatase in differentiating bone. Conclusion: we suggest that the observed metabolic alterations are secondary to the RUNX2 gene mutation affecting early bone maturation and turnover. This is the first description of biochemical findings of hypophosphatasia in patients with cleidocranial dysplasia.

Details

show
hide
Language(s): eng - English
 Dates: 2002-11
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Identifiers: eDoc: 25642
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: European Journal of Pediatrics
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 161 (11) Sequence Number: - Start / End Page: 619 - 622 Identifier: -