{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T23:03:56Z","timestamp":1767827036433,"version":"3.49.0"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T00:00:00Z","timestamp":1537142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81741102"],"award-info":[{"award-number":["81741102"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2019,2]]},"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Tetrahydrobiopterin (<jats:styled-content style=\"fixed-case\">BH<\/jats:styled-content><jats:sub>4<\/jats:sub>) deficiency is an autosomal recessive disorder, which is caused by an enzyme deficiency involved in its synthetic or metabolic pathways. Clinical symptoms may include microcephaly, hypoevolutism, severe ataxia, and seizures. The purposes of this study are to analyze the genotype\u2010phenotype and the pedigree of the first case of <jats:styled-content style=\"fixed-case\">BH<\/jats:styled-content><jats:sub>4<\/jats:sub> deficiency in the Uygur of China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>(a) This patient received tandem mass spectrometry, urinary neopterin and biopterin analysis, and determination of dihydropteridine reductase (<jats:styled-content style=\"fixed-case\">DHPR<\/jats:styled-content>) activity in dried blood spots. (b) Blood <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> samples of this patient and her three family members were collected for gene sequencing and mutation analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>(a) The basic urinary neopterin and biopterin were 1.07\u00a0mmol\/mol Cr and 3.12\u00a0mmol\/mol Cr, respectively, and biopterin percentage was 74.42%. The <jats:styled-content style=\"fixed-case\">DHPR<\/jats:styled-content> activity of this patient was 31.11% of normal control. (b) Sanger sequencing of <jats:italic><jats:styled-content style=\"fixed-case\">PAH<\/jats:styled-content><\/jats:italic> gene in this patient was negative but positive of her sister, which carries 2 heterozygous mutation c.781C&gt;T and c.1238G&gt;C. Next\u2010generation sequencing on the patient identified a homozygous mutation in the quinoid dihydropteridine reductase (<jats:italic><jats:styled-content style=\"fixed-case\">QDPR<\/jats:styled-content><\/jats:italic>) gene at c.508G&gt;A, which was confirmed by Sanger sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>(a) The patient was the first case of clinical diagnosis of <jats:styled-content style=\"fixed-case\">BH<\/jats:styled-content><jats:sub>4<\/jats:sub> deficiency in the Uighur. And there are two types of hyperphenylalaninemia (<jats:styled-content style=\"fixed-case\">HPA<\/jats:styled-content>) in the same family. (b) The mild <jats:styled-content style=\"fixed-case\">HPA<\/jats:styled-content> patient with severe nervous system damage should pay more attention to the <jats:styled-content style=\"fixed-case\">BH<\/jats:styled-content><jats:sub>4<\/jats:sub> deficiency. (c) Using next\u2010generation sequencing technology can increase the mutation detection rate when the hereditary diseases are highly suspected in clinic.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jcla.22665","type":"journal-article","created":{"date-parts":[[2018,9,17]],"date-time":"2018-09-17T07:25:03Z","timestamp":1537169103000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Gene mutation and pedigree analysis of tetrahydrobiopterin deficiency in a Uygur family of China"],"prefix":"10.1002","volume":"33","author":[{"given":"Long","family":"Li","sequence":"first","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0112-1050","authenticated-orcid":false,"given":"Yulan","family":"Qin","sequence":"additional","affiliation":[{"name":"Shihezi University  Shihezi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yajie","family":"Su","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haili","family":"Jiang","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuerya","family":"Rejiafu","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingzhu","family":"Li","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayijiamali","family":"Muhetaer","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yongqiao","family":"Liu","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Ren","sequence":"additional","affiliation":[{"name":"Neonatal Department People's Hospital of Xinjiang Uygur Autonomous Region  Urumqi Xinjiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,9,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.08.017"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20110293"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2015_441"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005628717813"},{"key":"e_1_2_7_6_1","unstructured":"BlauN YueW PerezB.[database on the Internet]. 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