title: Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.
abstract: 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.
authors.affiliation: Genetics of Infectious and Autoimmune Diseases, Pasteur Institute, INSERM E102, Paris, France.
authors.forename: Sabine
authors.initials: S
authors.lastname: Duchatelet
authors.forename: Elsebet
authors.initials: E
authors.lastname: Ostergaard
authors.forename: Dina
authors.initials: D
authors.lastname: Cortes
authors.forename: Arnaud
authors.initials: A
authors.lastname: Lemainque
authors.forename: Cécile
authors.initials: C
authors.lastname: Julier
mesh_terms: D000595:Amino Acid Sequence / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D004687:Enchondromatosis / Q000235:genetics*; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D044168:Receptor, Parathyroid Hormone, Type 1 / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D044168:Receptor, Parathyroid Hormone, Type 1