{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:25:22Z","timestamp":1777659922743,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T00:00:00Z","timestamp":1275350400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2010,6,1]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">Background:<\/jats:italic>\n                    X-linked hypophosphatemia (XLH) is the most common form of heritable rickets characterized by X-linked dominant inheritance, renal phosphate wasting, hypophosphatemia, and defective bone mineralization. Inactivating mutations of the\n                    <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                    gene located at Xp22.1 have been linked with this disease. Ethnic distribution of such mutations seems widespread but only a few mutations in the Chinese population have been reported to date.\n                    <jats:italic toggle=\"yes\">Materials and Methods:<\/jats:italic>\n                    We report on a large Han Chinese family affected with XLH rickets, which included 13 patients from four generations. Polymerase chain reaction and direct sequencing were performed for all exons and intron-exon boundaries of the\n                    <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                    gene. The effect of nucleotide changes was analyzed using bioinformatic software. Prenatal diagnosis was performed on umbilical cord blood at the 20th gestational week.\n                    <jats:italic toggle=\"yes\">Results:<\/jats:italic>\n                    A novel G\u2192A splice mutation in intron 7 (c.849+1G&gt;A) was identified in all patients from the family. As confirmed by reverse-transcription (RT)-polymerase chain reaction (PCR), the mutation has rendered loss of a normal splice donor site (c.849+1G) while activating a cryptic one at c.849+519G, which resulted in addition of 518 nucleotides to the mature RNA. Prenatal diagnosis had excluded the fetus for carrying the same mutation. A healthy boy was born later.\n                    <jats:italic toggle=\"yes\">Conclusions:<\/jats:italic>\n                    A novel splice mutation c.849+1G&gt;A in the\n                    <jats:italic toggle=\"yes\">PHEX<\/jats:italic>\n                    gene is responsible for XLH in the studied family. Further studies may enhance our understanding of the role of this mutation in the pathogenesis of XLH.\n                  <\/jats:p>","DOI":"10.1089\/gtmb.2009.0175","type":"journal-article","created":{"date-parts":[[2010,6,26]],"date-time":"2010-06-26T15:04:05Z","timestamp":1277564645000},"page":"385-391","source":"Crossref","is-referenced-by-count":7,"title":["Prenatal Diagnosis for a Novel Splice Mutation of\n                    <i>PHEX<\/i>\n                    Gene in a Large Han Chinese Family Affected with X-Linked Hypophosphatemic Rickets"],"prefix":"10.1177","volume":"14","author":[{"given":"Guangrong","family":"Qiu","sequence":"first","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caixia","family":"Liu","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jingyi","family":"Zhou","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peiyan","family":"Liu","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongkun","family":"Jiang","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]},{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiyan","family":"Hou","sequence":"additional","affiliation":[{"name":"Benxi Central Hospital","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanyan","family":"Zhao","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kailai","family":"Sun","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesse","family":"Li-Ling","sequence":"additional","affiliation":[{"name":"China Medical University","place":["China"]},{"name":"China Medical University","place":["China"]},{"name":"Northeastern University","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2010,6,26]]},"reference":[{"key":"e_1_3_3_2_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semnephrol.2003.08.016"},{"key":"e_1_3_3_3_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000169983.40758.7B"},{"key":"e_1_3_3_4_1","first-page":"198","article-title":"Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets","volume":"104","author":"Chou YY","year":"2005","unstructured":"Chou YY, , Chao SC, , Tsai SC et al. 2005. Novel PHEX gene mutations in two Taiwanese patients with hypophosphatemic rickets. J Formos Med Assoc, 104:198-202.","journal-title":"J Formos Med Assoc"},{"key":"e_1_3_3_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-009-9260-8"},{"key":"e_1_3_3_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<7::AID-HUMU4>3.0.CO;2-N"},{"key":"e_1_3_3_7_1","first-page":"3615","article-title":"Mutational analysis of PHEX gene in X-linked hypophosphatemia","volume":"83","author":"Dixon PH","year":"1998","unstructured":"Dixon PH, , Christie PT, , Wooding C et al. 1998. Mutational analysis of PHEX gene in X-linked hypophosphatemia. J Clin Endocrinol Metab, 83:3615-3623.","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_3_3_8_1","first-page":"3459","article-title":"A PHEX gene mutation is responsible for adult onset vitamin D resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets","volume":"83","author":"Econs MJ","year":"1998","unstructured":"Econs MJ, , Friedman NE, , Rowe PS et al. 1998. A PHEX gene mutation is responsible for adult onset vitamin D resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets. J Clin Endocrinol Metab, 83:3459-3462.","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_3_3_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-6009(08)80127-4"},{"key":"e_1_3_3_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200341"},{"key":"e_1_3_3_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.6.573"},{"key":"e_1_3_3_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0631-z"},{"key":"e_1_3_3_13_1","first-page":"790","article-title":"Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets","volume":"60","author":"Holm IA","year":"1997","unstructured":"Holm IA, , Huang X, , Kunkel LM. 1997. Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet, 60:790-797.","journal-title":"Am J Hum Genet"},{"key":"e_1_3_3_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.86.8.7761"},{"key":"e_1_3_3_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-130"},{"key":"e_1_3_3_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2008.06.002"},{"key":"e_1_3_3_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.6.8688"},{"key":"e_1_3_3_18_1","first-page":"182","article-title":"A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets","volume":"39","author":"Kim J","year":"2009","unstructured":"Kim J, , Yang KH, , Nam JS et al. 2009. A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets. Ann Clin Lab Sci, 39:182-187.","journal-title":"Ann Clin Lab Sci"},{"key":"e_1_3_3_19_1","doi-asserted-by":"publisher","DOI":"10.1159\/000092916"},{"key":"e_1_3_3_20_1","first-page":"73","article-title":"X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation","volume":"42","author":"Popowska E","year":"2001","unstructured":"Popowska E, , Pronicka E, , Sulek A et al. 2001. X-linked hypophosphatemia in Polish patients. 2. Analysis of clinical features and genotype-phenotype correlation. J Appl Genet, 42:73-88.","journal-title":"J Appl Genet"},{"key":"e_1_3_3_21_1","first-page":"3717","volume-title":"The Metabolic and Molecular Basis of Inherited Disease","author":"Rasmussen H","year":"1995","unstructured":"Rasmussen H, , Tenenhouse HS. 1995. Mendelian hypophosphatemias. Scriver CR, , Beaudet AL, , Sly WS, , Valle D. The Metabolic and Molecular Basis of Inherited Disease, 2. McGraw Hill: New York, NJ, 3717-3745."},{"key":"e_1_3_3_22_1","doi-asserted-by":"publisher","DOI":"10.1159\/000101487"},{"key":"e_1_3_3_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02185769"},{"key":"e_1_3_3_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.539"},{"key":"e_1_3_3_25_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.15.1539"},{"key":"e_1_3_3_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200007)16:1<1::AID-HUMU1>3.0.CO;2-J"},{"key":"e_1_3_3_27_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-09-0261"},{"key":"e_1_3_3_28_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200010000-00019"},{"key":"e_1_3_3_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/14.2.333"},{"key":"e_1_3_3_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200004)15:4<383::AID-HUMU18>3.0.CO;2-#"},{"key":"e_1_3_3_31_1","first-page":"4075","article-title":"X-linked hypophosphataemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children","volume":"81","author":"Whyte MP","year":"1996","unstructured":"Whyte MP, , Schranck FW, , Armamento R. 1996. X-linked hypophosphataemia: a search for gender, race, anticipation, or parent of origin effects on disease expression in children. J Clin Endocrinol Metab, 81:4075-4080.","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_3_3_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-007-9067-4"},{"key":"e_1_3_3_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.1997.tb03627.x"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/gtmb.2009.0175","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2009.0175","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/gtmb.2009.0175","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:02Z","timestamp":1777447262000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/gtmb.2009.0175"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,1]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,6,1]]}},"alternative-id":["10.1089\/gtmb.2009.0175"],"URL":"https:\/\/doi.org\/10.1089\/gtmb.2009.0175","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,1]]}}}