Growth plate extracellular matrix defects and short stature in children

다국어 초록 (Multilingual Abstract)

Many etiological factors causing short stature have already been identified in humans. In the last few years, the advent of new techniques for the detection of chromosomal and molecular abnormalities has made it possible to better identify patients with genetic causes of growth failure. Some of these factors directly affect the development and growth of the skeleton, since they damage the epiphyseal growth plate, where linear growth occurs, influencing chondrogenesis. In particular, defects in genes involved in the organization and function of the growth plate are responsible for several well-known conditions with short stature. These genes play a pivotal role in various mechanisms involving the extracellular matrix, intracellular signaling, paracrine signaling, endocrine signaling, and epigenetic regulation. In this review, we will discuss the genes involved in extracellular matrix disorders. The identification of genetic defects in linear growth failure is important for clinicians and researchers in order to improve the care of children affected by growth disorders.

참고문헌 (Reference)

1 Al Motawa MNA, "Weill-Marchesani syndrome, a rare presentation of severe short stature with review of the literature" 22 : e930824-, 2021

2 Hjorten R, "Type XXVII collagen at the transition of cartilage to bone during skeletogenesis" 41 : 535-542, 2007

3 Bateman JF, "Tissuespecific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage" 12 : 217-225, 2003

4 Posey KL, "Thrombospondins : from structure to therapeutics" 65 : 669-671, 2008

5 Adams JC, "The thrombospondins" 3 : a009712-, 2011

6 Krakow D, "The skeletal dysplasias" 12 : 327-341, 2010

7 Posey KL, "The role of cartilage oligomeric matrix protein(COMP)in skeletal disease" 9 : 869-877, 2008

8 Roughley PJ, "The role of aggrecan in normal and osteoarthritic cartilage" 1 : 8-, 2014

9 Wagener R, "The matrilins-adaptor proteins in the extracellular matrix" 579 : 3323-3329, 2005

10 Klatt AR, "The matrilins : modulators of extracellular matrix assembly" 43 : 320-330, 2011

11 Globa E, "The clinical cases of geleophysic dysplasia : one gene, different phenotypes" 2018 : 8212417-, 2018

12 Tsang KY, "The chondrocytic journey in endochondral bone growth and skeletal dysplasia" 102 : 52-73, 2014

13 Gibson BG, "The aggrecanopathies; an evolving phenotypic spectrum of human genetic skeletal diseases" 11 : 86-, 2016

14 Rajpar MH, "Targeted induction of endoplasmic reticulum stress induces cartilage pathology" 5 : e1000691-, 2009

15 Cortes M, "Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate" 136 : 1697-1706, 2009

16 Prein C, "Structural and mechanical properties of the proliferative zone of the developing murine growth plate cartilage assessed by atomic force microscopy" 50 : 1-15, 2016

17 Haga N, "Stature and severity in multiple epiphyseal dysplasia" 18 : 394-397, 1998

18 Bang P, "Statement 3 : a low serum IGF-I level in idiopathic short stature patients indicates partial GH insensitivity" 5 (5): 841-846, 2008

19 Anderson IJ, "Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen" 37 : 272-276, 1990

20 Annunen S, "Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes" 65 : 974-983, 1999

21 Krakow D, "Skeletal dysplasias" 42 : 301-319, 2015

22 Kochhar A, "Similarity of geleophysic dysplasia and weill-marchesani syndrome" 161A : 3130-3132, 2013

23 Kotabagi S, "Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1" 92 : 323-326, 2017

24 Posey KL, "Role of TSP-5/COMP in pseudoachondroplasia" 36 : 1005-1012, 2004

25 Hyytiäinen M, "Recombinant latent transforming growth factor β-binding protein 2 assembles to fibroblast extracellular matrix and is susceptible to proteolytic processing and release" 273 : 20669-20676, 1998

26 Chung HJ, "R992C (p.R1192C) Substitution in collagen II alters the structure of mutant molecules and induces the unfolded protein response" 390 : 306-318, 2009

27 Gamble C, "Pseudoachondroplasia and painful sequelae" 167A : 2618-2622, 2015

28 Unger S, "Pseudoachondroplasia and multiple epiphyseal dysplasia : new etiologic developments" 106 : 244-250, 2001

29 Briggs MD, "Pseudoachondroplasia and multiple epiphyseal dysplasia : mutation review, molecular interactions, and genotype to phenotype correlations" 19 : 465-478, 2002

30 Jackson GC, "Pseudoachondroplasia and multiple epiphyseal dysplasia : a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution" 33 : 144-157, 2012

31 Lewis CJ, "Primary congenital and developmental glaucomas" 26 (26): R28-R36, 2017

32 Patel R, "Predictive value of IAP 2015, IAP 2007 and WHO growth charts in identifying pathological short stature" 58 : 149-151, 2021

33 Costantini A, "Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures”" 121 : 163-171, 2019

34 Mortier GR, "Nosology and classification of genetic skeletal disorders : 2019 revision" 179 : 2393-2419, 2019

35 Le GoffC, "Mutations in the TGFβ binding-proteinlike domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias" 89 : 7-14, 2011

36 Lee CS, "Mutations in fibronectin cause a subtype of spondylometaphyseal dysplasia with “corner fractures”" 101 : 815-823, 2017

37 Unger S, "Multiple epiphyseal dysplasia : clinical and radiographic features, differential diagnosis and molecular basis" 22 : 19-32, 2008

38 Klatt AR, "Molecular structure and tissue distribution of matrilin-3, a filament-forming extracellular matrix protein expressed during skeletal development" 275 : 3999-4006, 2000

39 Allali S, "Molecular screening of ADAMTSL2gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia" 48 : 417-421, 2011

40 Chen H, "Molecular mechanisms of chondrocyte proliferation and differentiation" 9 : 664168-, 2021

41 Cecchi A, "Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome" 161A : 2305-2310, 2013

42 Sengle G, "Microenvironmental regulation by fibrillin-1" 8 : e1002425-, 2012

43 CadoffEB, "Mechanistic insights into the cellular effects of a novel FN1 variant associated with a spondylometaphyseal dysplasia" 94 : 429-437, 2018

44 Patterson SE, "Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia" 243 : 875-893, 2014

45 Bornstein P, "Matricellular proteins : extracellular modulators of cell function" 14 : 608-616, 2002

46 Griffith AJ, "Marshall syndrome associated with a splicing defect at the COL11A1 locus" 62 : 816-823, 1998

47 Gudbjartsson DF, "Many sequence variants affecting diversity of adult human height" 40 : 609-615, 2008

48 Robertson IB, "Latent TGF-β-binding proteins" 47 : 44-53, 2015

49 Haji-Seyed-Javadi R, "LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix" 33 : 1182-1187, 2012

50 Parsi MK, "LTBP-2 has multiple heparin/heparan sulfate binding sites" 29 : 393-401, 2010

51 Antipova O, "In situ D-periodic molecular structure of type II collagen" 285 : 7087-7096, 2010

52 Faivre L, "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome" 40 : 34-36, 2003

53 Pace JM, "Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1" 22 : 3-14, 2003

54 Pihlajamaa T, "Human COL9A1 and COL9A2 genes. Two genes of 90 and 15 kb code for similar polypeptides of the same collagen molecule" 17 : 237-241, 1998

55 Sentchordi-Montané L, "Heterozygous aggrecan variants are associated with short stature and brachydactyly : description of 16 probands and a review of the literature" 88 : 820-829, 2018

56 Faienza MF, "Growth plate gene involvement and isolated short stature" 71 : 28-34, 2021

57 Briggs MD, "Genotype to phenotype correlations in cartilage oligomeric matrix protein associated chondrodysplasias" 22 : 1278-1282, 2014

58 Hauer NN, "Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature" 7 : 12225-, 2017

59 Shanna Yue ; Philip Whalen ; Youn Hee Jee, "Genetic regulation of linear growth" 대한소아내분비학회 24 (24): 2-14, 2019

60 Briggs MD, "GeneReviewsⓇ" University of Washington 2022

61 England J, "GeneReviewsⓇ" University of Washington 2022

62 Marzin P, "GeneReviews® [Internet]" University of Washington 2020

63 Legare JM, "Geleophysic dysplasia : 48 year clinical update with emphasis on cardiac care" 176 : 2237-2242, 2018

64 Le GoffC, "From tall to short: the role of TGFβ signaling in growth and its disorders" 160C : 145-153, 2012

65 Evie Kritioti, "First reported case of Steel syndrome in the European population : a novel homozygous mutation in COL27A1 and review of the literature" 63 : 103939-, 2020

66 Tompson SW, "Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene" 87 : 708-712, 2010

67 Sakai LY, "Fibrillin protein pleiotropy : acromelic dysplasias" 80 : 6-13, 2019

68 Khan AO, "Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation" 33 : 235-239, 2012

69 Sakai LY, "FBN1 : the disease-causing gene for Marfan syndrome and other genetic disorders" 591 : 279-291, 2016

70 Chiarelli F, "Evaluation and management of a child with short stature" 72 : 452-461, 2020

71 Pei M, "Enhancing and maintaining chondrogenesis of synovial fibroblasts by cartilage extracellular matrix protein matrilins" 16 : 1110-1117, 2008

72 Nilsson O, "Endocrine regulation of the growth plate" 64 : 157-165, 2005

73 Rellmann Y, "Different forms of ER stress in chondrocytes result in short stature disorders and degenerative cartilage diseases : new insights by cartilagespecific ERp57 knockout mice" 2018 : 8421394-, 2018

74 Leighton MP, "Decreased chondrocyte proliferation and dysregulated apoptosis in the cartilage growth plate are key features of a murine model of epiphyseal dysplasia caused by a matn3 mutation" 16 : 1728-1741, 2007

75 Myllyharju J, "Collagens and collagen-related diseases" 33 : 7-21, 2001

76 Lian C, "Collagen type II suppresses articular chondrocyte hypertrophy and osteoarthritis progression by promoting integrin β1-SMAD1 interaction" 7 : 8-, 2019

77 Plumb DA, "Collagen XXVII organises the pericellular matrix in the growth plate" 6 : e29422-, 2011

78 Cook JR, "Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome" 802 : 77-94, 2014

79 Faivre L, "Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome" 123A : 204-207, 2003

80 Gkourogianni A, "Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations" 102 : 460-469, 2017

81 Schwartz NB, "Chondrodysplasias due to proteoglycan defects" 12 : 57R-68R, 2002

82 Xu K, "Cartilage oligomeric matrix protein associates with granulin-epithelin precursor(GEP)and potentiates GEP-stimulated chondrocyte proliferation" 282 : 11347-11355, 2007

83 Posey KL, "Cartilage oligomeric matrix protein : COMPopathies and beyond" 71-72 : 161-173, 2018

84 Müller G, "COMP(Cartilage Oligomeric Matrix Protein)is synthesized in ligament, tendon, meniscus, and articular cartilage" 39 : 233-244, 1998

85 Nundlall S, "An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia" 15 : 835-849, 2010

86 Wang LW, "Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage" 77 : 117-128, 2019

87 Mularczyk EJ, "ADAMTS10-mediated tissue disruption in Weill–Marchesani syndrome" 27 : 3675-3687, 2018

88 Tompson SW, "A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan" 84 : 72-79, 2009

89 Gariballa N, "A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss" 173 : 1257-1263, 2017

90 Van Camp G, "A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene" 79 : 449-457, 2006

91 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" 77 : 484-490, 2005

92 Czarny-Ratajczak M, "A mutation in COL9A1 causes multiple epiphyseal dysplasia : further evidence for locus heterogeneity" 69 : 969-980, 2001

93 Li Y, "A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis" 80 : 423-430, 1995

94 Apte SS, "A disintegrin-like and metalloprotease(reprolysintype)with thrombospondin type 1 motif(ADAMTS)superfamily : functions and mechanisms" 284 : 31493-31497, 2009