Journal Article

Recessive mutations in <i>PTHR1</i> cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

Sabine Duchatelet, Elsebet Ostergaard, Dina Cortes, Arnaud Lemainque and Cécile Julier

in Human Molecular Genetics

Volume 14, issue 1, pages 1-5
Published in print January 2005 | ISSN: 0964-6906
Published online November 2004 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddi001
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes

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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.

Journal Article.  2596 words.  Illustrated.

Subjects: Genetics and Genomics

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