Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing blomstrand osteochondrodysplasia types I and II

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 3, 2007, Pages 1088-1095

  Hoogendam, J ^a   Farih Sips, H ^a   Wynaendts L C ^b   Lowik C W G M ^a   Wit, J M ^a   Karperien, M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE RELATED PROTEIN RECEPTOR;

ARTICLE; CHONDRODYSPLASIA; CODON; DISEASE CLASSIFICATION; DISEASE SEVERITY; FEMALE; FETUS; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN FIBROBLAST;

EID: 33947538466     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-0300     Document Type: Article

References (30)

1. Mallette LE 1991 The parathyroid polyhormones: new concepts in the spectrum of peptide hormone action. Endocr Rev 12:110-117
2. Karaplis AC, Luz A, Glowacki J, Bronson RT, Tybulewicz VL, Kronenberg HM, Mulligan RC 1994 Lethal skeletal dysplasia from targeted disruption of the parathyroid hormone-related peptide gene. Genes Dev 8:277-289
3. Lanske B, Karaplis AC, Lee K, Luz A, Vortkamp A, Pirro A, Karperien M, Defize LH, Ho C, Mulligan RC, Abou-Samra AB, Juppner H, Segre GV, Kronenberg HM 1996 PTH/PTHrP receptor in early development and Indian hedgehog-regulated bone growth. Science 273:663-666
4. Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Juppner H 1999 A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia. J Clin Endocrinol Metab 84:3052-3057
5. Hopyan S, Gokgoz N, Poon R, Gensure RC, Yu C, Cole WG, Bell RS, Juppner H, Andrulis IL, Wunder JS, Alman BA 2002 A mutant PTH/PTHrP type I receptor in enchondromatosis. Nat Genet 30:306-310
6. Schipani E, Kruse K, Juppner H 1995 A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268:98-100
7. Schipani E, Langman CB, Parfitt AM, Jensen GS, Kikuchi S, Kooh SW, Cole WG, Juppner H 1996 Constitutively activated receptors for parathyroid hormone and parathyroid hormone-related peptide in Jansen's metaphyseal chondrodysplasia. N Engl J Med 335:708-714
8. Bastepe M, Raas-Rothschild A, Silver J, Weismann I, Wientroub S, Juppner H, Gillis D 2004 A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. J Clin Endocrinol Metab 89:3595-3600
9. Rozeman LB, Sangiorgi L, Briaire-de Bruijn IH, Mainil-Varlet P, Bertoni F, Cleton-Jansen AM, Hogendoorn PC, Bovee JM 2004 Enchondromatosis (Ollier disease, Maffucci syndrome) is not caused by the PTHR1 mutation p.R150C. Hum Mutat 24:466-473
10. 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 102:34-40
11. 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 83:3365-3368
12. Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, Ozawa H, Amizuka N1998 Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 139:5255-5258
13. Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C 2005 Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet 14:1-5
14. Eiken M, Prag J, Petersen KE, Kaufmann HJ 1984 A new familial skeletal dysplasia with severely retarded ossification and abnormal modeling of bones especially of the epiphyses, the hands, and feet. Eur J Pediatr 141:231-235
15. Wysolmerski JJ, Cormier S, Philbrick WM, Dann P, Zhang JP, Roume J, Delezoide AL, Silve C 2001 Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. J Clin Endocrinol Metab 86:1788-1794
16. Oostra RJ, van der Harten JJ, Rijnders WP, Scott RJ, Young MP, Trump D 2000 Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity. Virchows Arch 436:28-35
17. Spranger J, Maroteaux P 1990 The lethal osteochondrodysplasias. Adv Hum Genet 19:1-103, 331-2.:1-2
18. Young ID, Zuccollo JM, Broderick NJ 1993 A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia? J Med Genet 30:155-157
19. Leroy JG, Keersmaeckers G, Coppens M, Dumon JE, Roels H 1996 Blomstrand lethal osteochondrodysplasia. Am J Med Genet 63:84-89
20. Loshkajian A, Roume J, Stanescu V, Delezoide AL, Stampf F, Maroteaux P 1997 Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation. Am J Med Genet 71:283-288
21. den Hollander NS, van der Harten HJ, Vermeij-Keers C, Niermeijer MF, Wladimiroff JW 1997 First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia. Am J Med Genet 73:345-350
22. Oostra RJ, Baljet B, Dijkstra PF, Hennekam RC 1998 Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. II: Skeletal dysplasias. Am J Med Genet 77:116-134
23. Galera MF, Silva Patricio FR, Lederman HM, Porciuncula CG, Lopes Monlleo I, Brunoni D 1999 Blomstrand chondrodysplasia: a lethal sclerosing skeletal dysplasia. Case report and review. Pediatr Radiol 29:842-845
24. Wysolmerski JJ, McCaughern-Carucci JF, Daifotis AG, Broadus AE, Philbrick WM 1995 Overexpression of parathyroid hormone-related protein or parathyroid hormone in transgenic mice impairs branching morphogenesis morphogenesis during mammary gland development. Development 121:3539-3547
25. Blomstrand S, Claesson I, Save-Soderbergh J 1985 A case of lethal congenital dwarfism with accelerated skeletal maturation. Pediatr Radiol 15:141-143
26. Karperien M, van der Harten HJ, van Schooten R, Farih-Sips H, Den Hollander NS, Kneppers SL, Nijweide P, Papapoulos SE, Lowik 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
27. Schipani E, Weinstein LS, Bergwitz C, Lida-Klein A, Kong XF, Stuhrmann M, Kruse K, Whyte MP, Murray P, Schmidkte J 1995 Pseudohypoparathyroidism type Ib is not caused by mutations in the coding exons of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene. J Clin Endocrinol Metab 80:1611-1621
28. Walenkamp MJ, van der Kamp HJ, Pereira AM, Kant SG, van Duyvenvoorde HA, Kruithof MF, Breuning MH, Romijn JA, Karperien M, Wit JM 2006 A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor. J Clin Endocrinol Metab 91:3062-3070
29. Chomczynski P, Sacchi N 1987 Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156-159
30. Van Bezooijen RL, Farih-Sips HC, Papapoulos SE, Lowik CW 1998 IL-1α, IL-1β, IL-6, and TNF-α steady-state mRNA levels analyzed by reverse transcription-competitive PCR in bone marrow of gonadectomized mice. J Bone Miner Res 13:185-194