{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T06:08:37Z","timestamp":1763705317128},"reference-count":42,"publisher":"Springer Science and Business Media LLC","issue":"4","license":[{"start":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T00:00:00Z","timestamp":1498176000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Curr Osteoporos Rep"],"published-print":{"date-parts":[[2017,8]]},"DOI":"10.1007\/s11914-017-0388-6","type":"journal-article","created":{"date-parts":[[2017,6,23]],"date-time":"2017-06-23T00:29:33Z","timestamp":1498177773000},"page":"303-310","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility"],"prefix":"10.1007","volume":"15","author":[{"given":"Riikka E.","family":"M\u00e4kitie","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anders J.","family":"K\u00e4mpe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fulya","family":"Taylan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"M\u00e4kitie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2017,6,23]]},"reference":[{"key":"388_CR1","doi-asserted-by":"publisher","first-page":"465","DOI":"10.1038\/nrrheum.2013.45","volume":"9","author":"O M\u00e4kitie","year":"2013","unstructured":"M\u00e4kitie O. Causes, mechanisms and management of paediatric osteoporosis. Nat Rev Rheumatol. 2013;9:465\u201375.","journal-title":"Nat Rev Rheumatol"},{"key":"388_CR2","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1001\/jama.285.6.785","volume":"285","author":"NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy","year":"2001","unstructured":"NIH Consensus Development Panel on Osteoporosis Prevention, Diagnosis, and Therapy. Osteoporosis prevention, diagnosis, and therapy. JAMA. 2001;285:785\u201395.","journal-title":"JAMA"},{"key":"388_CR3","doi-asserted-by":"publisher","first-page":"395","DOI":"10.1016\/j.jpeds.2004.10.052","volume":"146","author":"O M\u00e4kitie","year":"2005","unstructured":"M\u00e4kitie O, Doria AS, Henriques F, et al. Radiographic vertebral morphology: a diagnostic tool in pediatric osteoporosis. J Pediatr. 2005;146:395\u2013401.","journal-title":"J Pediatr"},{"key":"388_CR4","doi-asserted-by":"publisher","first-page":"275","DOI":"10.1016\/j.jocd.2014.01.004","volume":"17","author":"N Bishop","year":"2014","unstructured":"Bishop N, Arundel P, Clark E, International Society of Clinical Densitometry, et al. Fracture prediction and the definition of osteoporosis in children and adolescents: the ISCD 2013 pediatric official positions. J Clin Densitom. 2014;17:275\u201380.","journal-title":"J Clin Densitom"},{"key":"388_CR5","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1111\/j.1749-6632.2009.05317.x","volume":"1192","author":"SH Ralston","year":"2010","unstructured":"Ralston SH. Genetics of osteoporosis. Ann N Y Acad Sci. 2010;1192:181\u20139.","journal-title":"Ann N Y Acad Sci"},{"key":"388_CR6","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1038\/nature14878","volume":"526","author":"HF Zheng","year":"2015","unstructured":"Zheng HF, Forgetta V, Hsu YH, et al. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015;526:112\u20137.","journal-title":"Nature"},{"key":"388_CR7","doi-asserted-by":"publisher","first-page":"2017","DOI":"10.1002\/jbmr.5650101223","volume":"10","author":"R Gu\u00e9guen","year":"1995","unstructured":"Gu\u00e9guen R, Jouanny P, Guillemin F, Kuntz C, Pourel J, Siest G. Segregation analysis and variance components analysis of bone mineral density in healthy families. J Bone Miner Res. 1995;10:2017\u201322.","journal-title":"J Bone Miner Res"},{"key":"388_CR8","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1677\/joe.0.1660235","volume":"166","author":"TL Stewart","year":"2000","unstructured":"Stewart TL, Ralston SH. Role of genetic factors in the pathogenesis of osteoporosis. J Endocrinol. 2000;166:235\u201345. Review.","journal-title":"J Endocrinol"},{"key":"388_CR9","doi-asserted-by":"publisher","first-page":"2869","DOI":"10.1002\/ajmg.a.37365","volume":"167A","author":"L Bonafe","year":"2015","unstructured":"\u2022 Bonafe L, Cormier-Daire V, Hall C, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet A. 2015;167A:2869\u201392. This review provides the newly refined classification for different types of osteogenesis imperfecta and other genetic forms of skeletal disorders.","journal-title":"Am J Med Genet A"},{"key":"388_CR10","doi-asserted-by":"publisher","first-page":"3095","DOI":"10.1210\/jc.2013-1505","volume":"98","author":"JC Marini","year":"2013","unstructured":"Marini JC, Blissett AR. New genes in bone development: what\u2019s new in osteogenesis imperfecta. J Clin Endocrinol Metab. 2013;98:3095\u2013103.","journal-title":"J Clin Endocrinol Metab"},{"key":"388_CR11","doi-asserted-by":"publisher","first-page":"3427","DOI":"10.1007\/s00198-016-3723-3","volume":"27","author":"P Trejo","year":"2016","unstructured":"Trejo P, Rauch F. Osteogenesis imperfecta in children and adolescents\u2014new developments in diagnosis and treatment. Osteoporos Int. 2016;27:3427\u201337.","journal-title":"Osteoporos Int"},{"key":"388_CR12","doi-asserted-by":"publisher","first-page":"11920","DOI":"10.1038\/ncomms11920","volume":"7","author":"U Lindert","year":"2016","unstructured":"Lindert U, Cabral WA, Ausavarat S, et al. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Nat Commun. 2016;7:11920.","journal-title":"Nat Commun"},{"key":"388_CR13","doi-asserted-by":"publisher","first-page":"1042","DOI":"10.1038\/ejhg.2015.81","volume":"23","author":"K Lindahl","year":"2015","unstructured":"Lindahl K, \u00c5str\u00f6m E, Rubin CJ, et al. Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. Eur J Hum Genet. 2015;23:1042\u201350.","journal-title":"Eur J Hum Genet"},{"key":"388_CR14","doi-asserted-by":"publisher","first-page":"540178","DOI":"10.4061\/2011\/540178","volume":"2011","author":"IM Ben Amor","year":"2011","unstructured":"Ben Amor IM, Glorieux FH, Rauch F. Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta. J Osteoporos. 2011;2011:540178.","journal-title":"J Osteoporos"},{"key":"388_CR15","doi-asserted-by":"publisher","first-page":"513","DOI":"10.1016\/S0092-8674(01)00571-2","volume":"107","author":"Y Gong","year":"2001","unstructured":"Gong Y, Slee RB, Fukai N, et al. LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell. 2001;107:513\u201323.","journal-title":"Cell"},{"key":"388_CR16","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1111\/j.1365-2265.2009.03680.x","volume":"72","author":"A Saarinen","year":"2010","unstructured":"Saarinen A, Saukkonen T, Kivel\u00e4 T, et al. Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia. Clin Endocrinol. 2010;72:481\u20138.","journal-title":"Clin Endocrinol"},{"key":"388_CR17","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1093\/hmg\/10.5.537","volume":"10","author":"W Balemans","year":"2001","unstructured":"Balemans W, Ebeling M, Patel N, et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet. 2001;10:537\u201343.","journal-title":"Hum Mol Genet"},{"key":"388_CR18","doi-asserted-by":"publisher","first-page":"928","DOI":"10.1101\/gr.3437105","volume":"15","author":"GG Loots","year":"2005","unstructured":"Loots GG, Kneissel M, Keller H, et al. Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. Genome Res. 2005;15:928\u201335.","journal-title":"Genome Res"},{"key":"388_CR19","doi-asserted-by":"publisher","first-page":"500","DOI":"10.1097\/MOP.0000000000000117","volume":"26","author":"JC Marini","year":"2014","unstructured":"Marini JC, Reich A, Smith SM. Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation. Curr Opin Pediatr. 2014;26:500\u20137.","journal-title":"Curr Opin Pediatr"},{"key":"388_CR20","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1038\/nm.3074","volume":"19","author":"R Baron","year":"2013","unstructured":"\u2022\u2022 Baron R, Kneissel M. WNT signaling in bone homeostasis and disease: from human mutations to treatments. Nat Med. 2013;19:179\u201392. This article gives a good review of the importance of WNT signaling to bone health.","journal-title":"Nat Med"},{"key":"388_CR21","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1186\/1471-2350-13-26","volume":"13","author":"J Korvala","year":"2012","unstructured":"Korvala J, J\u00fcppner H, M\u00e4kitie O, et al. Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC Med Genet. 2012;13:26.","journal-title":"BMC Med Genet"},{"key":"388_CR22","doi-asserted-by":"publisher","first-page":"577","DOI":"10.1086\/318811","volume":"68","author":"ME Brunkow","year":"2001","unstructured":"Brunkow ME, Gardner JC, Van Ness J, et al. Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cysteine knot-containing protein. Am J Hum Genet. 2001;68:577\u201389.","journal-title":"Am J Hum Genet"},{"key":"388_CR23","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1136\/jmg.39.2.91","volume":"39","author":"W Balemans","year":"2002","unstructured":"Balemans W, Patel N, Ebeling M, et al. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet. 2002;39:91\u20137.","journal-title":"J Med Genet"},{"key":"388_CR24","doi-asserted-by":"publisher","first-page":"1809","DOI":"10.1056\/NEJMoa1215458","volume":"368","author":"CM Laine","year":"2013","unstructured":"Laine CM, Joeng KS, Campeau PM, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013;368:1809\u201316.","journal-title":"N Engl J Med"},{"key":"388_CR25","doi-asserted-by":"publisher","first-page":"565","DOI":"10.1016\/j.ajhg.2013.02.010","volume":"92","author":"K Keupp","year":"2013","unstructured":"Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013;92:565\u201374.","journal-title":"Am J Hum Genet"},{"key":"388_CR26","doi-asserted-by":"publisher","first-page":"590","DOI":"10.1016\/j.ajhg.2013.02.009","volume":"92","author":"SM Pyott","year":"2013","unstructured":"Pyott SM, Tran TT, Leistritz DF, et al. WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta. Am J Hum Genet. 2013;92:590\u20137.","journal-title":"Am J Hum Genet"},{"key":"388_CR27","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1136\/jmedgenet-2013-101567","volume":"50","author":"S Fahiminiya","year":"2013","unstructured":"Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet. 2013;50:345\u20138.","journal-title":"J Med Genet"},{"key":"388_CR28","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1136\/jmedgenet-2013-101750","volume":"50","author":"E Faqeih","year":"2013","unstructured":"Faqeih E, Shaheen R, Alkuraya FS. WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype. J Med Genet. 2013;50:491\u20132.","journal-title":"J Med Genet"},{"key":"388_CR29","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/j.cca.2016.07.012","volume":"461","author":"Y Liu","year":"2016","unstructured":"Liu Y, Song L, Ma D, et al. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations. Clin Chim Acta. 2016;461:172\u201380.","journal-title":"Clin Chim Acta"},{"key":"388_CR30","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1016\/j.ejmg.2014.10.001","volume":"58","author":"J Stephen","year":"2015","unstructured":"Stephen J, Girisha KM, Dalal A, et al. Mutations in patients with osteogenesis imperfecta from consanguineous Indian families. Eur J Med Genet. 2015;58:21\u20137.","journal-title":"Eur J Med Genet"},{"key":"388_CR31","doi-asserted-by":"publisher","first-page":"510","DOI":"10.1002\/jbmr.2355","volume":"30","author":"CM Laine","year":"2015","unstructured":"Laine CM, Wessman M, Toiviainen-Salo S, et al. A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis. J Bone Miner Res. 2015;30:510\u20138.","journal-title":"J Bone Miner Res"},{"key":"388_CR32","doi-asserted-by":"publisher","first-page":"1529","DOI":"10.1056\/NEJMoa1308223","volume":"369","author":"FS Dijk van","year":"2013","unstructured":"van Dijk FS, Zillikens MC, Micha D, et al. PLS3 mutations in X-linked osteoporosis with fractures. N Engl J Med. 2013;369:1529\u201336.","journal-title":"N Engl J Med"},{"key":"388_CR33","doi-asserted-by":"publisher","first-page":"1805","DOI":"10.1002\/jbmr.2208","volume":"29","author":"S Fahiminiya","year":"2014","unstructured":"Fahiminiya S, Majewski J, Al-Jallad H, et al. Osteoporosis caused by mutations in PLS3: clinical and bone tissue characteristics. J Bone Miner Res. 2014;29:1805\u201314.","journal-title":"J Bone Miner Res"},{"key":"388_CR34","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1016\/j.ajhg.2015.04.017","volume":"96","author":"CF Munns","year":"2015","unstructured":"Munns CF, Fahiminiya S, Poudel N, et al. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. Am J Hum Genet. 2015;96:971\u20138.","journal-title":"Am J Hum Genet"},{"key":"388_CR35","doi-asserted-by":"publisher","first-page":"1577","DOI":"10.1002\/jbmr.2834","volume":"31","author":"F Taylan","year":"2016","unstructured":"Taylan F, Costantini A, Coles N, et al. Spondyloocular syndrome: novel mutations in XYLT2 gene and expansion of the phenotypic spectrum. J Bone Miner Res. 2016;31:1577\u201385.","journal-title":"J Bone Miner Res"},{"key":"388_CR36","doi-asserted-by":"publisher","first-page":"1734","DOI":"10.1002\/jbmr.2841","volume":"31","author":"RE M\u00e4kitie","year":"2016","unstructured":"M\u00e4kitie RE, Haanp\u00e4\u00e4 M, Valta H, et al. Skeletal characteristics of WNT1 osteoporosis in children and young adults. J Bone Miner Res. 2016;31:1734\u201342.","journal-title":"J Bone Miner Res"},{"key":"388_CR37","doi-asserted-by":"publisher","unstructured":"V\u00e4lim\u00e4ki VV, M\u00e4kitie O, Pereira R, et al. Teriparatide treatment in patients with WNT1 or PLS3 mutation-related early-onset osteoporosis\u2014a pilot study. J Clin Endocrinol Metab. 2016; doi:\n                      10.1210\/jc.2016-2423\n                      \n                    .","DOI":"10.1210\/jc.2016-2423"},{"key":"388_CR38","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1083\/jcb.153.5.947","volume":"153","author":"N Volkmann","year":"2001","unstructured":"Volkmann N, DeRosier D, Matsudaira P, Hanein D. An atomic model of actin filaments cross-linked by fimbrin and its implications for bundle assembly and function. J Cell Biol. 2001;153:947\u201356.","journal-title":"J Cell Biol"},{"key":"388_CR39","doi-asserted-by":"publisher","first-page":"1990","DOI":"10.1093\/hmg\/ddt595","volume":"23","author":"AN Lyon","year":"2014","unstructured":"Lyon AN, Pineda RH, Hao le T, Kudryashova E, Kudryashov DS, Beattie CE. Calcium binding is essential for plastin 3 function in Smn-deficient motoneurons. Hum Mol Genet. 2014;23:1990\u20132004.","journal-title":"Hum Mol Genet"},{"key":"388_CR40","doi-asserted-by":"publisher","first-page":"524","DOI":"10.1126\/science.1155085","volume":"320","author":"GE Oprea","year":"2008","unstructured":"Oprea GE, Krober S, McWhorter ML, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science. 2008;320:524\u20137.","journal-title":"Science"},{"key":"388_CR41","doi-asserted-by":"publisher","first-page":"2089","DOI":"10.1007\/s00018-015-2084-y","volume":"73","author":"L Heesen","year":"2016","unstructured":"\u2022\u2022 Heesen L, Peitz M, Torres-Benito L, et al. Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals. Cell Mol Life Sci. 2016;73:2089\u2013104. This paper reports the first finding of an X-chromosomal form of OI and expands our knowledge on the possible inheritance patterns.","journal-title":"Cell Mol Life Sci"},{"key":"388_CR42","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1055\/s-0042-118706","volume":"48","author":"F Taylan","year":"2016","unstructured":"Taylan F, M\u00e4kitie O. Abnormal proteoglycan synthesis due to gene defects causes skeletal diseases with overlapping phenotypes. Horm Metab Res. 2016;48:745\u201354.","journal-title":"Horm Metab Res"}],"container-title":["Current Osteoporosis Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s11914-017-0388-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-017-0388-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s11914-017-0388-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,9,6]],"date-time":"2019-09-06T12:22:08Z","timestamp":1567772528000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s11914-017-0388-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,23]]},"references-count":42,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["388"],"URL":"https:\/\/doi.org\/10.1007\/s11914-017-0388-6","relation":{},"ISSN":["1544-1873","1544-2241"],"issn-type":[{"value":"1544-1873","type":"print"},{"value":"1544-2241","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,23]]},"assertion":[{"value":"23 June 2017","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"Outi M\u00e4kitie reports payment for lecture and advisory board membership from Alexion and KyoawKirin.Anders K\u00e4mpe, Riikka M\u00e4kitie, and Fulya Taylan declare no conflicts of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}},{"value":"This article does not contain any studies with human or animal subjects performed by any of the authors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Human and Animal Rights and Informed Consent"}}]}}