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Utilizing this technology in the management of disorders with complex genetic background and not recurrent mutation hot spots can be extremely useful. In this study, we applied NGS, namely semiconductor sequencing to determine the most significant osteogenesis imperfecta-related genetic variants in the clinical practice. We selected genes coding collagen type I alpha-1 and-2 (<jats:italic>COL1A1, COL1A2<\/jats:italic>) which are responsible for more than 90% of all cases. <jats:italic>CRTAP<\/jats:italic> and <jats:italic>LEPRE1\/P3H1<\/jats:italic> genes involved in the background of the recessive forms with relatively high frequency (type VII and VIII) represent less than 10% of the disease. In our six patients (1\u201341 years), we identified 23 different variants. We found a total of 14 single nucleotide variants (SNV) in <jats:italic>COL1A1<\/jats:italic> and <jats:italic>COL1A2<\/jats:italic>, 5 in <jats:italic>CRTAP<\/jats:italic> and 4 in <jats:italic>LEPRE1<\/jats:italic>. Two novel and two already well-established pathogenic SNVs have been identified. Among the newly recognized mutations, one results in an amino acid change and one of them is a stop codon. We have shown that a new full-scale cost-effective NGS method can be developed and utilized to supplement diagnostic process of osteogenesis imperfecta with molecular genetic data in clinical practice.<\/jats:p>","DOI":"10.1038\/srep28417","type":"journal-article","created":{"date-parts":[[2016,6,23]],"date-time":"2016-06-23T09:20:16Z","timestamp":1466673616000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Next-generation sequencing of common osteogenesis imperfecta-related genes in clinical practice"],"prefix":"10.1038","volume":"6","author":[{"given":"Krist\u00f3f","family":"\u00c1rvai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Horv\u00e1th","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernadett","family":"Balla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B\u00e1lint","family":"Tobi\u00e1s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karina","family":"Kat\u00f3","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gy\u00f6ngyi","family":"Kirschner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9ria","family":"Klujber","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P\u00e9ter","family":"Lakatos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00e1nos P.","family":"K\u00f3sa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,6,23]]},"reference":[{"key":"BFsrep28417_CR1","doi-asserted-by":"publisher","first-page":"721","DOI":"10.1016\/j.cell.2008.02.028","volume":"132","author":"A Von Bubnoff","year":"2008","unstructured":"Von Bubnoff, A. 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