Novel genetic cause of idiopathic short stature
2
조회
0
다운로드
2
인용
0
참고문헌
키워드
초록
Traditionally, the growth hormone – insulin-like growth factor I (GH – IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH – IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH – IGF-I system. Rapid development of diagnostic technologies has enabled discovery of many genetic causes of ISS. This paper discusses 5 genes, SHOX, NPR2, NPPC, FGFR3, and ACAN, that may lead to better understanding of ISS.
Abstract
Traditionally, the growth hormone – insulin-like growth factor I (GH – IGF-I) axis is the most important signaling pathway in linear growth, and defects in this axis present as growth hormone deficiencies or IGF-I deficiencies. However, subtle changes in serum levels of GH or IGF-I, caused by gene mutations involved in the GH – IGF-I axis, can present as idiopathic short stature (ISS). This paper briefly discusses GHR and IGFALS. In addition, recent studies have shown that many factors, including paracrine signals, extracellular matrix, and intracellular mechanisms of chondrocytes, regulate the growth plate independent of the GH – IGF-I system. Rapid development of diagnostic technologies has enabled discovery of many genetic causes of ISS. This paper discusses 5 genes, SHOX, NPR2, NPPC, FGFR3, and ACAN, that may lead to better understanding of ISS.
참고문헌 (48)
- Cohen P, "Controversy in clinical endocrinology: problems with reclassification of insulin-like growth factor I production and action disorders", J Clin Endocrinol Metab, 91, pp.4235~4236 (2006)
- Codner E, "Relationship between serum growth hormone binding protein levels and height in young men", J Pediatr Endocrinol Metab, 13, pp.887~892 (2000)
- Gill MS, "Regular fluctuations in growth hormone (GH) release determine normal human growth", Growth Horm IGF Res, 9, pp.114~122 (1999)
- Rosenfeld RG, "Growth hormone (GH) insensitivity due to primary GH receptor deficiency", Endocr Rev, 15, pp.369~390 (1994)
- Attie KM, "Evidence for partial growth hormone insensitivity among patients with idiopathic short stature. The National Cooperative Growth Study", J Pediatr, 127, pp.244~250 (1995)
- Carlsson LM, "Ligand-mediated immunofunctional assay for quantitation of growth hormone-binding protein in human blood", J Clin Endocrinol Metab, 73, pp.1216~1223 (1991)
- Carlsson LM, "Reduced concentration of serum growth hormone-binding protein in children with idiopathic short stature. National Cooperative Growth Study", J Clin Endocrinol Metab, 78, pp.1325~1330 (1994)
- Mauras N, "Growth hormone-binding protein levels: studies of children with short stature", Metabolism, 43, pp.357~359 (1994)
- Goddard AD, "Mutations of the growth hormone receptor in children with idiopathic short stature. The Growth Hormone Insensitivity Study Group", N Engl J Med, 333, pp.1093~1098 (1995)
- Boisclair YR, "The acidlabile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system", J Endocrinol, 170, pp.63~70 (2001)
- Hwa V, "Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure", J Clin Endocrinol Metab, 91, pp.1826~1831 (2006)
- van Duyvenvoorde HA, "Homozygous and heterozygous expression of a novel mutation of the acidlabile subunit", Eur J Endocrinol, 159, pp.113~120 (2008)
- Baron J, "Short and tall stature: a new paradigm emerges", Nat Rev Endocrinol, 11, pp.735~746 (2015)
- Wit JM, "Mechanisms in endocrinology: novel genetic causes of short stature", Eur J Endocrinol, 174, pp.R145~R173 (2016)
- Andrade AC, "New genetic diagnoses of short stature provide insights into local regulation of childhood growth", Horm Res Paediatr, 88, pp.22~37 (2017)
- Ellison JW, "PHOG, a candidate gene for involvement in the short stature of Turner syndrome", Hum Mol Genet, 6, pp.1341~1347 (1997)
- Rao E, "Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome", Nat Genet, 16, pp.54~63 (1997)
- Oliveira CS, "The role of the SHOX gene in the pathophysiology of Turner syndrome", Endocrinol Nutr, 58, pp.433~442 (2011)
- Zinn AR, "Complete SHOX deficiency causes Langer mesomelic dysplasia", Am J Med Genet, 110, pp.158~163 (2002)
- Jorge AA, "SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability", Clin Endocrinol (Oxf), 66, pp.130~135 (2007)
- Clement-Jones M, "The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome", Hum Mol Genet, 9, pp.695~702 (2000)
- Binder G, "Short stature due to SHOX deficiency: genotype, phenotype, and therapy", Horm Res Paediatr, 75, pp.81~89 (2011)
- Shima H, "Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri- Weill dyschondrosteosis", J Hum Genet, 61, pp.585~591 (2016)
- Malaquias AC, "The sitting height", height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis, 2013, pp.80, 449~456
- Benito-Sanz S, "Identification of the first PAR1 deletion encompassing upstream SHOX enhancers in a family with idiopathic short stature", Eur J Hum Genet, 20, pp.125~127 (2012)
- Vasques GA, "Role of the natriuretic peptide system in normal growth and growth disorders", Horm Res Paediatr, 82, pp.222~229 (2014)
- Krejci P, "Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis", J Cell Sci, 118(Pt 21), pp.5089~5100 (2005)
- Olney RC, "C-type natriuretic peptide in growth: a new paradigm", Growth Horm IGF Res, 16(Suppl A), pp.S6~S14 (2006)
- Bartels CF, "Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux", Am J Hum Genet, 75, pp.27~34 (2004)
- Hisado-Oliva A, "Heterozygous NPR2 mutations cause disproportionate short stature, similar to Léri-Weill dyschondrosteosis", J Clin Endocrinol Metab, 100, pp.E1133~E1142 (2015)
- Amano N, "Identification and functional characterization of two novel NPR2 mutations in Japanese patients with short stature", J Clin Endocrinol Metab, 99, pp.E713~E718 (2014)
- Vasques GA, "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature in patients initially classified as idiopathic short stature", J Clin Endocrinol Metab, 98, pp.E1636~E1644 (2013)
- Wang SR, "Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature", Hum Mutat, 36, pp.474~481 (2015)
- Alfonso Hisado-Oliva, "Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature", Genetics in Medicine, 20(1), pp.91~97 (2017), Springer Nature[DOI]
- Karuppaiah K, "FGF signaling in the osteoprogenitor lineage nonautonomously regulates postnatal chondrocyte proliferation and skeletal growth", Development, 143, pp.1811~1822 (2016)
- Rousseau F, "Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia", Nature, 371, pp.252~254 (1994)
- Martínez-Frías ML, "Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia", Am J Med Genet A, 152A, pp.245~255 (2010)
- Bonaventure J, "Common mutations in the gene encoding fibroblast growth factor receptor 3 account for achondroplasia, hypochondroplasia and thanatophoric dysplasia", Acta Paediatr Suppl, 417, pp.33~38 (1996)
- Mancilla EE, "Mutations in the fibroblast growth factor receptor 3 gene (FGFR3) in Chilean patients with idiopathic short stature, hypochondroplasia and achondroplasia", Rev Med Chil, 131, pp.1405~1410 (2003)
- Mamada M, "Prevalence of mutations in the FGFR3 gene in individuals with idiopathic short stature", Clin Pediatr Endocrinol, 15, pp.61~64 (2006)
- Kant SG, "A novel variant of FGFR3 causes proportionate short stature", Eur J Endocrinol, 172, pp.763~770 (2015)
- Roughley PJ, "The role of aggrecan in normal and osteoarthritic cartilage", J Exp Orthop, 1, pp.8~ (2014)
- Tompson SW, "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan", Am J Hum Genet, 84, pp.72~79 (2009)
- Gleghorn L, "A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis", Am J Hum Genet, 77, pp.484~490 (2005)
- Dateki S, "Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation", J Hum Genet, 62, pp.717~721 (2017)
- Quintos JB, "Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene", J Pediatr Endocrinol Metab, 28, pp.927~932 (2015)
- Nilsson O, "Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations", J Clin Endocrinol Metab, 99, pp.E1510~E1518 (2014)
- Hu X, "Novel pathogenic ACAN variants in non-syndromic short stature patients", Clin Chim Acta, 469, pp.126~129 (2017)
