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The aim of this study was to analyze and identify the mutations in 16 patients from 8 families with FRG. All coding regions, including intron-exon boundaries, were analyzed using PCR followed by direct sequence analysis. Six mutations in SLC5A2 gene were identified, including five missense mutations (c.393G\u2009&gt;\u2009C, p.K131N; c.1003A\u2009&gt;\u2009G, p.S335G; c.1343A\u2009&gt;\u2009G, p.Q448R; c.1420G\u2009&gt;\u2009C, p.A474P; c.1739G\u2009&gt;\u2009A, p.G580D) and a 22-bp deletion in intron 7 (c.886(-10_-31)del) removing the putative branch point sequence. By the minigene studies using the pSPL3 plasmids, we confirmed that the deletion c.886(-10_-31)del acts as a splicing mutation. Furthermore, we found that this deletion causes exclusion of exon 8 in the SCL5A2 transcript in patients. The mutation c.886(-10_-31)del was present in 5 (62.5%) of 8 families and accounts for about 37.5% of the total alleles (6\/16). In conclusion, six mutations resulting in FRG were found and the c.886(-10_-31)del may be the high frequency mutation that can be screened in FRG patients with uniallelic or negative SLC5A2 mutations.<\/jats:p>","DOI":"10.1038\/srep33920","type":"journal-article","created":{"date-parts":[[2016,9,26]],"date-time":"2016-09-26T11:02:42Z","timestamp":1474887762000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria"],"prefix":"10.1038","volume":"6","author":[{"given":"Xiangzhong","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhua","family":"Lang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ting","family":"liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jingru","family":"Lu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Tuffery-Giraud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Bottillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xinsheng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leping","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2016,9,26]]},"reference":[{"key":"BFsrep33920_CR1","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1023\/A:1005632012591","volume":"23","author":"G Brown","year":"2000","unstructured":"Brown, G. 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