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Recessive mutations in PTHR1 cause constrasting 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.

OriginalsprogEngelsk
TidsskriftHuman Molecular Genetics
Vol/bind14
Udgave nummer1
Sider (fra-til)1-5
Antal sider5
ISSN0964-6906
DOI
StatusUdgivet - 1 jan. 2005

ID: 236898283