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Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

Authors: Duchatelet, Sabine  Ostergaard, Elsebet  Cortes, Dina  Lemainque, Arnaud  Julier, C├ęcile 
Citation: Duchatelet S, etal., Hum Mol Genet. 2005 Jan 1;14(1):1-5. Epub 2004 Nov 3.
Pubmed: (View Article at PubMed) PMID:15525660
DOI: Full-text: DOI:10.1093/hmg/ddi001

Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.

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CRRD Object Information
CRRD ID: 12910707
Created: 2017-06-21
Species: All species
Last Modified: 2017-06-21
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.