{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T04:09:59Z","timestamp":1778731799062,"version":"3.51.4"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"1","license":[{"start":{"date-parts":[[2019,6,1]],"date-time":"2019-06-01T00:00:00Z","timestamp":1559347200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,8,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Achondrogenesis is a group of rare and fatal disorders occurring in approximately one in every 40,000-60,000 newborns. Achondrogenesis is classified in three groups, as Achondrogenesis type 1A (Houston-Harris type or AC-G1A), Achondrogenesis type 1B (Parenti-Fraccaro type or ACG1B) and Achondrogenesis type 2 (Langer-Saldino type or ACG2), depending on clinical and radiological findings. Achondrogenesis Type 2 is a lethal skeletal dysplasia that is typically characterized by short arms and legs, a small chest with short ribs, lung hypoplasia, a prominent forehead, a small chin, and an enlarged abdomen that may accompanied by polydramnios and hydrops. This study contributes to the literature by presenting a patient who was admitted to the Level \u0399\u0399\u0399 Neonatal Intensive Care Unit (NICU), Bursa, Turkey), with extremely short extremities, a small chest, abdominal distention and respiratory distress, who was diagnosed with ACG2. On the\n                    <jats:italic>COL2A1<\/jats:italic>\n                    gene, genetic analysis with next generation sequencing (NGS), was revealed to have a heterozygous missense variation, c.2546G&gt;A, p.Gly849Asp mutation, which is a different genetic variant that has not been previously described in the literature.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2019-0001","type":"journal-article","created":{"date-parts":[[2019,8,28]],"date-time":"2019-08-28T05:04:26Z","timestamp":1566968666000},"page":"89-94","source":"Crossref","is-referenced-by-count":4,"title":["Achondrogenesis type 2 in a newborn with a novel mutation on the\n                    <i>COL2A1<\/i>\n                    gene"],"prefix":"10.2478","volume":"22","author":[{"given":"P","family":"Dogan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"IG","family":"Varal","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O","family":"Gorukmez","sequence":"additional","affiliation":[{"name":"Department of Genetics, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MO","family":"Akkurt","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Division of Perinatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Akdag","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Neonatology, University of Health Sciences, Bursa Yuksek Ihtisas Teaching Hospital , Bursa , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2019,8,28]]},"reference":[{"key":"2026051403242504634_j_bjmg-2019-0001_ref_001_w2aab3b7ab1b6b1ab1b4b1Aa","doi-asserted-by":"crossref","unstructured":"Spranger J, Beighton P, Giedion A, Gorlin R, Hall J, Horton B, et al. International Working Group on Constitutional Diseases of Bone. Eur J Pediatr. 1992; 151(6): 407-415.","DOI":"10.1007\/BF01959352"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_002_w2aab3b7ab1b6b1ab1b4b2Aa","doi-asserted-by":"crossref","unstructured":"Lee HS, Doh JW, Kim CJ, Chi JG. Achondrogenesis type II (Langer-Saldino achondrogenesis): A case report. J Korean Med Sci. 2000; 15(5): 604-608.10.3346\/jkms.2000.15.5.60411069003","DOI":"10.3346\/jkms.2000.15.5.604"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_003_w2aab3b7ab1b6b1ab1b4b3Aa","unstructured":"Swar MO, Srikrishna BV. Achondrogenesis type II (Langer-Saldino) \u2013 A case report. Afr J Med Sci. 1995; 24(3): 297-299."},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_004_w2aab3b7ab1b6b1ab1b4b4Aa","doi-asserted-by":"crossref","unstructured":"Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, et al. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and \"patchy\" expression in the mosaic father. Am J Med Genet A. 2007; 143 A(23): 2815-2820.","DOI":"10.1002\/ajmg.a.32047"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_005_w2aab3b7ab1b6b1ab1b4b5Aa","doi-asserted-by":"crossref","unstructured":"Robinson JT, Thorvald\u00f3sdttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011; 29(1): 24-26.2122109510.1038\/nbt.1754","DOI":"10.1038\/nbt.1754"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_006_w2aab3b7ab1b6b1ab1b4b6Aa","doi-asserted-by":"crossref","unstructured":"Gormez Z, Bakir-Gungor B, Sagiroglu MS. HomSI: Ahomozygous stretch identifier from next-generation sequencing data. Bioinformatics. 2014; 30(3): 445-447.10.1093\/bioinformatics\/btt686","DOI":"10.1093\/bioinformatics\/btt686"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_007_w2aab3b7ab1b6b1ab1b4b7Aa","doi-asserted-by":"crossref","unstructured":"Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. Prenat Diagn. 2018; 38(9): 692-699.10.1002\/pd.529829907962","DOI":"10.1002\/pd.5298"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_008_w2aab3b7ab1b6b1ab1b4b8Aa","doi-asserted-by":"crossref","unstructured":"Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, et al. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012; 160C(3): 205-216.10.1002\/ajmg.c.3133222791362","DOI":"10.1002\/ajmg.c.31332"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_009_w2aab3b7ab1b6b1ab1b4b9Aa","doi-asserted-by":"crossref","unstructured":"Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 2010; 18(6): 642-647.10.1038\/ejhg.2009.24220087402","DOI":"10.1038\/ejhg.2009.242"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_010_w2aab3b7ab1b6b1ab1b4c10Aa","doi-asserted-by":"crossref","unstructured":"Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, et al. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015; 167A(3): 461-475.","DOI":"10.1002\/ajmg.a.36922"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_011_w2aab3b7ab1b6b1ab1b4c11Aa","doi-asserted-by":"crossref","unstructured":"Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, et al. Mutation update for COL2A1 gene variants associated with type II collagenopathies. Hum Mutat. 2016; 37(1): 7-15.10.1002\/humu.2291526443184","DOI":"10.1002\/humu.22915"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_012_w2aab3b7ab1b6b1ab1b4c12Aa","doi-asserted-by":"crossref","unstructured":"Kannu \u03a1, Irving \u039c, Aftimos S, Savarirayan R. Two novel COL2A1 mutations associated with a Legg-Calv\u00e9-Perthes disease-like presentation. Clin Orthop Relat Res. 2011; 469(6): 1785-1790.10.1007\/s11999-011-1850-x21442341","DOI":"10.1007\/s11999-011-1850-x"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_013_w2aab3b7ab1b6b1ab1b4c13Aa","doi-asserted-by":"crossref","unstructured":"Vanegas S, Sua LF, L\u00f3pez-Tenorio J, Ram\u00edrez-Monta\u00f1o D, Pachajoa H. Achondrogenesis type IA: Clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 2018; 11: 69-73.10.2147\/TACG.S15723529872333","DOI":"10.2147\/TACG.S157235"},{"key":"2026051403242504634_j_bjmg-2019-0001_ref_014_w2aab3b7ab1b6b1ab1b4c14Aa","unstructured":"Eyre DR, Upton MP, Shapiro FD, Wilkinson RH, Vawter GF. Nonexpression of cartilage type II collagen in a case of Lander-Saldino achondrogenesis. Am J Hum Genet. 1986; 39(1): 52-67."}],"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/content.sciendo.com\/view\/journals\/bjmg\/22\/1\/article-p89.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2019-0001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T03:24:44Z","timestamp":1778729084000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2019-0001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,8,28]]},"published-print":{"date-parts":[[2019,8,28]]}},"alternative-id":["10.2478\/bjmg-2019-0001"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2019-0001","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,1]]}}}