{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,23]],"date-time":"2025-06-23T13:09:13Z","timestamp":1750684153225,"version":"3.40.5"},"reference-count":16,"publisher":"Walter de Gruyter GmbH","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0055_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Acromesomelic dysplasia, type Maroteaux, is an autosomal recessive skeletal dysplasia caused by biallelic loss of function variations of <jats:italic>NPR2<\/jats:italic>, which encodes a cartilage regulator C-type natriuretic peptide receptor B. <jats:italic>NPR2<\/jats:italic> variations impair skeletal growth. It is a rare type of dwarfism characterized by shortening of the middle and distal segments of the limbs with spondylar dysplasia.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0055_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We performed detailed clinical and radiological evaluation and sequence analysis for <jats:italic>NPR2<\/jats:italic>.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0055_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Herein, we report nine patients from eight families with two novel <jats:italic>NPR2<\/jats:italic> pathogenic variants.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0055_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>This study describes typical clinical phenotypes of Maroteaux type acromesomelic dysplasia, and enriches the variant spectrum of <jats:italic>NPR2<\/jats:italic> by reporting one nonsense and one missense novel variant. We emphasize the importance of detailed clinical evaluation before genetic testing in diagnosing rare skeletal disorders.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0055","type":"journal-article","created":{"date-parts":[[2021,6,24]],"date-time":"2021-06-24T00:03:08Z","timestamp":1624492988000},"page":"1115-1121","source":"Crossref","is-referenced-by-count":2,"title":["Acromesomelic dysplasia-Maroteaux type, nine patients with two novel <i>NPR2<\/i> variants"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0522-1809","authenticated-orcid":false,"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics , University of Health Sciences, Ankara City Hospital , Ankara , Turkey"},{"name":"\u00dcniversiteler Mahallesi , 1604, Cadde No: 9, 06800 \u00c7ankaya\/Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00fc\u015franur","family":"\u00c7avdarl\u0131","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Ankara City Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G\u00f6n\u00fcl","family":"B\u00fcy\u00fcky\u0131lmaz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology , Ankara City Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mustafa","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[{"name":"Department of Pediatric Metabolism , Sami Ulus Children Hospital , Ankara , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,6,24]]},"reference":[{"key":"2021090720501754196_j_jpem-2021-0055_ref_001","unstructured":"Maroteaux, P, Martinelli, B, Campailla, E. Acromesomelic dwarfism. Presse Med 1971;79:1839\u201342."},{"key":"2021090720501754196_j_jpem-2021-0055_ref_002","doi-asserted-by":"crossref","unstructured":"Langer, LO, Garrett, RT. Acromesomelic dysplasia. Radiology 1980;137:349\u201355. https:\/\/doi.org\/10.1148\/radiology.137.2.7433666.","DOI":"10.1148\/radiology.137.2.7433666"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_003","doi-asserted-by":"crossref","unstructured":"Kant, SG, Polinkovsky, A, Mundlos, S, Zabel, B, Thomeer, RT, Zonderland, HM, et al.. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9. Am J Hum Genet 1998;63:155\u201362. https:\/\/doi.org\/10.1086\/301917.","DOI":"10.1086\/301917"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_004","doi-asserted-by":"crossref","unstructured":"Bartels, CF, B\u00fck\u00fclmez, H, Padayatti, P, Rhee, DK, van Ravenswaaij-Arts, C, Pauli, RM, 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\u201334. https:\/\/doi.org\/10.1086\/422013.","DOI":"10.1086\/422013"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_005","doi-asserted-by":"crossref","unstructured":"Irfanullah Zeb, A, Shinwari, N, Shah, K, Gilani, SZT, Khan, S, Lee, KW, et al.. Molecular and in\u00a0silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux. Int J Biochem Cell Biol 2018;102:76\u201386. https:\/\/doi.org\/10.1016\/j.biocel.2018.07.004.","DOI":"10.1016\/j.biocel.2018.07.004"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_006","doi-asserted-by":"crossref","unstructured":"Simsek-Kiper, PO, Urel-Demir, G, Taskiran, EZ, Arslan, UE, Nur, B, Mihci, E, et al.. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type Maroteaux: a Turkish Tertiary Center experience. J Hum Genet 2020. https:\/\/doi.org\/10.1038\/s10038-020-00871-0.","DOI":"10.1038\/s10038-020-00871-0"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_007","doi-asserted-by":"crossref","unstructured":"Ain, NU, Iqbal, M, Valta, H, Emerling, CA, Ahmed, S, Makitie, O, et al.. Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux. Eur J Med Genet 2019;62:103554. https:\/\/doi.org\/10.1016\/j.ejmg.2018.10.006.","DOI":"10.1016\/j.ejmg.2018.10.006"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_008","doi-asserted-by":"crossref","unstructured":"Hisado-Oliva, A, Garre-V\u00e1zquez, AI, Santaolalla-Caballero, F, Belinch\u00f3n, A, Barreda-Bonis, AC, Vasques, GA, et al.. Heterozygous NPR2 mutations cause disproportionate short stature, similar to L\u00e9ri\u2013Weill dyschondrosteosis. J Clin Endocrinol Metab 2015;100:E1133\u201342. https:\/\/doi.org\/10.1210\/jc.2015-1612.","DOI":"10.1210\/jc.2015-1612"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_009","doi-asserted-by":"crossref","unstructured":"Khan, S, Ali, RH, Abbasi, S, Nawaz, M, Muhammad, N, Ahmad, W. Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type Maroteaux. BMC Med Genet 2012;13:44. https:\/\/doi.org\/10.1186\/1471-2350-13-44.","DOI":"10.1186\/1471-2350-13-44"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_010","doi-asserted-by":"crossref","unstructured":"Khan, S, Basit, S, Khan, MA, Muhammad, N, Ahmad, W. Genetics of human isolated acromesomelic dysplasia. Eur J Med Genet 2016;59:198\u2013203. https:\/\/doi.org\/10.1016\/j.ejmg.2016.02.011.","DOI":"10.1016\/j.ejmg.2016.02.011"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_011","doi-asserted-by":"crossref","unstructured":"Richards, S, Aziz, N, Bale, S, Bick, D, Das, S, Gastier-Foster, J, et al.. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405\u201324. https:\/\/doi.org\/10.1038\/gim.2015.30.","DOI":"10.1038\/gim.2015.30"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_012","doi-asserted-by":"crossref","unstructured":"Amano, N, Kitoh, H, Narumi, S, Nishimura, G, Hasegawa, T. A novel NPR2 mutation (p.Arg388Gln) in a patient with acromesomelic dysplasia, type Maroteaux. Clin Pediatr Endocrinol 2020;29:99\u2013103. https:\/\/doi.org\/10.1297\/cpe.29.99.","DOI":"10.1297\/cpe.29.99"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_013","doi-asserted-by":"crossref","unstructured":"Olney, RC, B\u00fck\u00fclmez, H, Bartels, CF, Prickett, TC, Espiner, EA, Potter, LR, et al.. 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Hum Mutat 2007;28:724\u201331. https:\/\/doi.org\/10.1002\/humu.20511.","DOI":"10.1002\/humu.20511"},{"key":"2021090720501754196_j_jpem-2021-0055_ref_016","doi-asserted-by":"crossref","unstructured":"Wang, SR, Jacobsen, CM, Carmichael, H, Edmund, AB, Robinson, JW, Olney, RC, et al.. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat 2015;36:474\u201381. https:\/\/doi.org\/10.1002\/humu.22773.","DOI":"10.1002\/humu.22773"}],"container-title":["Journal of Pediatric Endocrinology and Metabolism"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0055\/xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0055\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T20:58:25Z","timestamp":1631048305000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.degruyter.com\/document\/doi\/10.1515\/jpem-2021-0055\/html"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,24]]},"references-count":16,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2021,6,30]]},"published-print":{"date-parts":[[2021,9,27]]}},"alternative-id":["10.1515\/jpem-2021-0055"],"URL":"https:\/\/doi.org\/10.1515\/jpem-2021-0055","relation":{},"ISSN":["0334-018X","2191-0251"],"issn-type":[{"type":"print","value":"0334-018X"},{"type":"electronic","value":"2191-0251"}],"subject":[],"published":{"date-parts":[[2021,6,24]]}}}