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Human Molecular Genetics Advance Access originally published online on November 3, 2004
Human Molecular Genetics 2005 14(1):1-5; doi:10.1093/hmg/ddi001
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Human Molecular Genetics, Vol. 14, No. 1 © Oxford University Press 2005; all rights reserved

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

Sabine Duchatelet1, Elsebet Ostergaard2, Dina Cortes3, Arnaud Lemainque4 and Cécile Julier1,*

1Genetics of Infectious and Autoimmune Diseases, Pasteur Institute, INSERM E102, 28 rue du docteur Roux, 75724 Paris Cedex 15, France, 2Department of Medical Genetics, The John F. Kennedy Institute, Gl. Landevej 7, 2600 Glostrup, Denmark, 3Department of Pediatrics, Glostrup University Hospital, Ndr. Ringvej 57, 2600 Glostrup, Denmark and 4Centre National de Génotypage, 2 rue Gaston Crémieux, CP 5721, 91057 Evry Cedex, France

* To whom correspondence should be addressed. Tel: +33 140613701; Fax: +33 145688929; Email: cjulier{at}pasteur.fr

Received September 25, 2004; Accepted October 20, 2004

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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