Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes
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Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes. / Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina; Lemainque, Arnaud; Julier, Cécile.
In: Human Molecular Genetics, Vol. 14, No. 1, 01.01.2005, p. 1-5.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes
AU - Duchatelet, Sabine
AU - Ostergaard, Elsebet
AU - Cortes, Dina
AU - Lemainque, Arnaud
AU - Julier, Cécile
PY - 2005/1/1
Y1 - 2005/1/1
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=12344338238&partnerID=8YFLogxK
U2 - 10.1093/hmg/ddi001
DO - 10.1093/hmg/ddi001
M3 - Journal article
C2 - 15525660
AN - SCOPUS:12344338238
VL - 14
SP - 1
EP - 5
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 1
ER -
ID: 236898283