C-type natriuretic peptide plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia

Journal of Clinical Endocrinology and Metabolism

Volumn 100, Issue 2, 2015, Pages E355-E359

  Olney, Robert C ^a   Prickett, Timothy C R ^b   Espiner, Eric A ^b   Mackenzie, William G ^c   Duker, Angela L ^c   Ditro, Colleen ^c   Zabel, Bernhard ^d   Hasegawa, Tomonobu ^e   Kitoh, Hiroshi ^f   Aylsworth, Arthur S ^g   Bober, Michael B ^c  

^a NEMOURS CHILDREN S CLINIC   (United States)

^b UNIVERSITY OF OTAGO   (New Zealand)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d UNIVERSITY OF FREIBURG   (Germany)

^e KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^f NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g UNIVERSITY OF NORTH CAROLINA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

NATRIURETIC PEPTIDE TYPE C;

ACHONDROPLASIA; ADULT; ARTICLE; BLOOD ANALYSIS; BODY HEIGHT; CHILD; DISEASE ASSOCIATION; FEMALE; GENOTYPE; GROWTH PLATE; HUMAN; HYPOCHONDROPLASIA; MAJOR CLINICAL STUDY; MALE; OBSERVATIONAL STUDY; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; THANATOPHORIC DWARFISM; VELOCITY; BLOOD; BONE; CONGENITAL MALFORMATION; DWARFISM; LIMB MALFORMATION; LORDOSIS; MIDDLE AGED; PRESCHOOL CHILD; PROSPECTIVE STUDY;

ACHONDROPLASIA; ADULT; BONE AND BONES; CHILD; CHILD, PRESCHOOL; DWARFISM; FEMALE; HUMANS; LIMB DEFORMITIES, CONGENITAL; LORDOSIS; MALE; MIDDLE AGED; NATRIURETIC PEPTIDE, C-TYPE; PROSPECTIVE STUDIES; THANATOPHORIC DYSPLASIA;

EID: 84927566029     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-2814     Document Type: Article

References (20)

1. Olney RC C-type natriuretic peptide in growth: a new paradigm. Growth Horm IGF Res. 2006; 16(suppl A): S6-S14.
2. Bartels CF, Bükülmez H, Padayatti P, et al. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet. 2004; 75: 27-34.
3. Prickett TCR, Espiner EA. C-type natriuretic peptide (CNP) and postnatal linear growth. In: Preedy VR, ed. Handbook of Growth and Growth Monitoring in Health and Disease. Vol. 1. New York, NY: Springer; 2012: 2789-2810.
4. Hunter AG, Bankier A, Rogers JG, Sillence D, Scott CI Jr Medical complications of achondroplasia: a multicentre patient review. J Med Genet. 1998; 35: 705-712.
5. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994; 78: 335-342.
6. Bellus GA, McIntosh I, Smith EA, et al. A recurrent mutation in the tyrosine kinase domain offibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet. 1995; 10: 357-359.
7. Tavormina PL, Shiang R, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet. 1995; 9: 321-328.
8. Foldynova-Trantirkova S, Wilcox WR, Krejci P. Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3(FGFR3) signaling in skeletal dysplasias. Hum Mutat. 2012; 33: 29-41.
9. Ozasa A, Komatsu Y, Yasoda A, et al. Complementary antagonistic actions between C-type natriuretic peptide and the MAPK pathway through FGFR-3 in ATDC5 cells. Bone. 2005; 36: 1056-1064.
10. Olney RC, Permuy JW, Prickett TC, Han JC, Espiner EA. Aminoterminal propeptide of C-type natriuretic peptide (NTproCNP) predicts height velocity in healthy children. Clin Endocrinol (Oxf). 2012; 77: 416-422.
11. Prickett TC, Olney RC, Cameron VA, Ellis MJ, Richards AM, Espiner EA. Impact of age, phenotype and cardio-renal function on plasma C-type and B-type natriuretic peptide forms in an adult population. Clin Endocrinol (Oxf). 2013; 78: 783-789.
12. Cole TJ The LMS method for constructing normalized growth standards. Eur J Clin Nutr. 1990; 44: 45-60.
13. National Center for Health Statistics. 2000 CDC Growth Charts for the United States: methods and development. Vital Health Stat. 2002; 11: 1-203.
14. Horton WA, Rotter JI, Rimoin DL, Scott CI, Hall JG. Standard growth curves for achondroplasia. J Pediatr. 1978; 93: 435-438.
15. Miura K, Namba N, Fujiwara M, et al. An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene. PLoS One. 2012; 7: e42180.
16. Hannema SE, van Duyvenvoorde HA, Premsler T, et al. An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities. J Clin Endocrinol Metab. 2013; 98: E1988-E1998.
17. Yasoda A, Komatsu Y, Chusho H, et al. Overexpression of CNP in chondrocytes rescues achondroplasia through a MAPK-dependent pathway. Nat Med. 2004; 10: 80-86.
18. Krejci P, Masri B, Fontaine V, Mekikian PB, Weis M, Prats H, Wilcox WR. Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis. J Cell Sci. 2005; 118: 5089-5100.
19. Hutchison MR BDNFalters ERK/p38 MAPK activity ratiostopromote differentiation in growth plate chondrocytes. Mol Endocrinol. 2012; 26: 1406-1416.
20. Palmer SC, Prickett TC, Espiner EA, Yandle TG, Richards AM. Regional release and clearance of C-type natriuretic peptides in the human circulation and relation to cardiac function. Hypertension. 2009; 54: 612-618.