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Chondrodysplasia, Blomstrand type; BOCD

Disease ID:213
Name:Chondrodysplasia, Blomstrand type; BOCD
Associated with:1 target
Blomstrand lethal chondrodysplasia
Database Links
OMIM: 215045
Orphanet: ORPHA50945


PTH1 receptor
Comments:  A G -> A polymorphism at position 1176 has been identified in humans. It results in the deletion of the first 11 amino acids of exon M5 (encoding the fifth transmembrane domain of the receptor), resulting from the use of a novel splice site created by the base substitution. This may be linked to Blomstrand chondrodysplasia (Jobert et al., 1998).

A frame-shift mutation resulting from a G nucleotide deletion in position 1122 has been identified in humans and may be linked to Blomstrand chondrodysplasia (Karperian et al., 1999). A homozygous point mutation in exon EL2 occurs in which a G nucleotide is deleted. the resulting frameshift causes a truncated protein exhibiting complete diversion from the wild-type amino acid sequence.

A Pro132 -> Leu polymorphism has been identified in humans and may be linked to Blomstrand chondrodysplasia (Hoogendam et al., 2006; Karaplis et al., 1998; Zhang et al., 1998).

Other mutations the PTHR1 gene, resulting in different levels of inactivation of the PTH1 receptor, have been linked to Blomstrand chondrodysplasia (Hoogendam et al., 2006).
References:  1-5
Mutations:  PTH1 receptor is associated with 3 mutation. Click here for details


No ligand related data available for Chondrodysplasia, Blomstrand type; BOCD


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1. Hoogendam J, Farih-Sips H, Wynaendts LC, Löwik CW, Wit JM, Karperien M. (2006) Novel mutations in the PTHR1 causing Blomstrand osteochondrodysplasia type I and II. J Clin Endocrinol Metab,: -. [PMID:17164305]

2. Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest, 102 (1): 34-40. [PMID:9649554]

3. Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N. (1998) Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology, 139 (12): 5255-8. [PMID:9832466]

4. Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Löwik CW. (1999) A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metab, 84: 3713-3720. [PMID:10523019]

5. Zhang P, Jobert AS, Couvineau A, Silve C. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab, 83 (9): 3365-8. [PMID:9745456]