{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T12:58:58Z","timestamp":1791291538135,"version":"4.3.0"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,3,12]],"date-time":"2015-03-12T00:00:00Z","timestamp":1426118400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100000380","name":"Guys and St Thomas' Charity","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000380","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["bjui-journals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["BJU International"],"published-print":{"date-parts":[[2015,7]]},"abstract":"\n Objective<\/jats:title>\n \n To examine the genetic mutations in the first\n UK<\/jats:styled-content>\n cohort of patients with cystinuria with preliminary genotype\/phenotype correlation.\n <\/jats:p>\n <\/jats:sec>\n \n Patients and Methods<\/jats:title>\n \n DNA<\/jats:styled-content>\n sequencing and multiplex ligation\u2010dependent probe amplification (\n MLPA<\/jats:styled-content>\n ) were used to identify the mutations in 74 patients in a specialist cystinuria clinic in the\n UK<\/jats:styled-content>\n . Patients with type A cystinuria were classified into two groups: Group M patients had at least one missense mutation and Group N patients had two alleles of all other types of mutations including frameshift, splice site, nonsense, deletions and duplications. The levels of urinary dibasic amino acids, age at presentation of disease, number of stone episodes and interventions were compared between patients in the two groups using the Mann\u2013Whitney\n U<\/jats:italic>\n \u2010test.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n In all, 41 patients had type A cystinuria, including one patient with a variant of unknown significance and 23 patients had type B cystinuria, including six patients with variants of unknown significance. One patient had three sequence variants in\n SLC<\/jats:styled-content>\n 7A9; however, two are of unknown significance. Three patients had type\n AB<\/jats:styled-content>\n cystinuria. Three had a single mutation in\n SLC<\/jats:styled-content>\n 7A9. No identified mutations were found in three patients in either gene. There were a total of 88 mutations in\n SLC<\/jats:styled-content>\n 3A1 and 55 mutations in\n SLC<\/jats:styled-content>\n 7A9. There were 23 pathogenic mutations identified in our\n UK<\/jats:styled-content>\n cohort of patients not previously published. In patients with type A cystinuria, the presence of a missense mutation correlated to lower levels of urinary lysine (mean [\n se<\/jats:sc>\n ] 611.9 [22.65] vs 752.3 [46.39] millimoles per mole of creatinine [m\n m<\/jats:sc>\n \/\n MC<\/jats:styled-content>\n ];\n P<\/jats:italic>\n =0.02), arginine (194.8 [24.83] vs 397.7 [15.32] m\n m<\/jats:sc>\n \/\n MC<\/jats:styled-content>\n ;\n P<\/jats:italic>\n <0.001) and ornithine (109.2 [7.40] vs 146.6 [12.7] m\n m<\/jats:sc>\n \/\n MC<\/jats:styled-content>\n ;\n P<\/jats:italic>\n =0.02). There was no difference in the levels of urinary cystine (182.1 [8.89] vs 207.2 [19.23] m\n m<\/jats:sc>\n \/\n MC<\/jats:styled-content>\n ;\n P<\/jats:italic>\n =0.23).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n We have characterised the genetic diversity of cystinuria in a\n UK<\/jats:styled-content>\n population including 23 pathogenic mutations not previously published. Patients with at least one missense mutation in\n SLC<\/jats:styled-content>\n 3A1 had significantly lower levels of lysine, arginine, and ornithine but not cystine than patients with all other combinations of mutations.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1111\/bju.12894","type":"journal-article","created":{"date-parts":[[2014,8,11]],"date-time":"2014-08-11T09:24:45Z","timestamp":1407749085000},"page":"109-116","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":45,"title":["The genetic diversity of cystinuria in a\n UK<\/scp>\n population of patients"],"prefix":"10.1111","volume":"116","author":[{"given":"Kathie A.","family":"Wong","sequence":"first","affiliation":[{"name":"The Urology Centre Guys and St. Thomas' NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachael","family":"Mein","sequence":"additional","affiliation":[{"name":"Genetics Department Guys Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Wass","sequence":"additional","affiliation":[{"name":"School of Biosciences University of Kent Canterbury Kent UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frances","family":"Flinter","sequence":"additional","affiliation":[{"name":"Genetics Department Guys Hospital London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Pardy","sequence":"additional","affiliation":[{"name":"The Urology Centre Guys and St. Thomas' NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Bultitude","sequence":"additional","affiliation":[{"name":"The Urology Centre Guys and St. Thomas' NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay","family":"Thomas","sequence":"additional","affiliation":[{"name":"The Urology Centre Guys and St. Thomas' NHS Foundation Trust London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,3,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrurol.2014.51"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2006.06169.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(05)64824-0"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1159\/000190250"},{"key":"e_1_2_7_6_1","first-page":"611","article-title":"Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1","volume":"60","author":"Bisceglia L","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2010.69"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.143.3605.482"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105157"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00198-2"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0494-420"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/12652"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(06)68071-9"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065703321560886"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI105351"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12041-011-0045-2"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2011.01638.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.09.001"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.022244"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ki.5000241"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1228"},{"key":"e_1_2_7_22_1","first-page":"353","article-title":"Genetic variations of the SLC7A9 gene: allele distribution of 13 polymorphic sites in German cystinuria patients and controls","volume":"59","author":"Schmidt C","year":"2003","journal-title":"Clin Nephrol"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.07.006"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2008.01.011"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000029586.17680.E5"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1157\/13090704"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1569-9056(11)60699-4"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.4.305"},{"key":"e_1_2_7_29_1","unstructured":"The International Rare Kidney Stone Consortium.Rare Kidney Stone Consortium 2010. 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