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.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Duchatelet S,Ostergaard E,Cortes D,Lemainque A,Julier Cdoi
10.1093/hmg/ddi001subject
Has Abstractpub_date
2005-01-01 00:00:00pages
1-5issue
1eissn
0964-6906issn
1460-2083pii
ddi001journal_volume
14pub_type
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