{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T09:06:13Z","timestamp":1771232773201,"version":"3.50.1"},"reference-count":40,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,26]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0624_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Hereditary Hypophosphatemic Rickets (HHR) is a heterogeneous group of disorders characterized by hypophosphatemia. Although the X-linked dominant HHR is the most common form, the genetic etiology of HHR is variable. Recently, developed next-generation sequencing techniques may provide opportunities for making HHR diagnosis in a timely and efficient way.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0624_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We investigated clinical and genetic features for 18 consecutive probands and their 17 affected family members with HHR. All patient\u2019s clinical and biochemical data were collected. We first analyzed a single gene with Next-generation sequencing if the patients have a strong clue for an individual gene. For the remaining cases, a Hypophosphatemic Rickets gene panel, including all known HHR genes by Next-generation sequencing, was employed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0624_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We were able to diagnosis all of the consecutive 35 patients in our tertiary care center. We detected nine novel and 10 previously described variants in <jats:italic>PHEX<\/jats:italic> (9; 50%), <jats:italic>SLC34A3<\/jats:italic> (3; 17%), <jats:italic>ENPP1<\/jats:italic> (3; 17%), <jats:italic>SLC34A1<\/jats:italic> (1; 5%), <jats:italic>CLCN5<\/jats:italic> (1; 5%), and <jats:italic>DMP1<\/jats:italic> (1; 5%).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0624_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>To delineate the etiology of HHR cases in a cost and time-efficient manner, we propose single gene analysis by next-generation sequencing if findings of patients indicate a strong clue for an individual gene. If that analysis is negative or for all other cases, a Next-generation Sequence gene panel, which includes all known HHR genes, should be employed.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0624","type":"journal-article","created":{"date-parts":[[2021,4,13]],"date-time":"2021-04-13T20:04:08Z","timestamp":1618344248000},"page":"639-648","source":"Crossref","is-referenced-by-count":7,"title":["Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets"],"prefix":"10.1515","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5654-247X","authenticated-orcid":false,"given":"Ihsan","family":"Turan","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5914-9166","authenticated-orcid":false,"given":"Sevcan","family":"Erdem","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Cardiology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6176-8986","authenticated-orcid":false,"given":"Leman Damla","family":"Kotan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2100-0301","authenticated-orcid":false,"given":"Semine","family":"Ozdemir Dilek","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehmet","family":"Tastan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2160-9838","authenticated-orcid":false,"given":"Fatih","family":"Gurbuz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2053-9076","authenticated-orcid":false,"given":"At\u0131l","family":"Bi\u015fgin","sequence":"additional","affiliation":[{"name":"AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Cukurova University , Adana , Turkey"},{"name":"and Department of Medical Genetics , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2644-5628","authenticated-orcid":false,"given":"Aysun","family":"Karabay Bayaz\u0131t","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Nephrology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2931-9552","authenticated-orcid":false,"given":"Ali Kemal","family":"Topaloglu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , University of Mississippi Medical Center , Jackson , MS , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4378-3255","authenticated-orcid":false,"given":"Bilgin","family":"Yuksel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Endocrinology , Cukurova University Faculty of Medicine , Adana , Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,4,13]]},"reference":[{"key":"2023040101405215346_j_jpem-2020-0624_ref_001","doi-asserted-by":"crossref","unstructured":"Carpenter, TO. 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