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Sci Rep. 2016 Sep 26;6:33920. doi: 10.1038/srep33920.

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria.

Author information

1
Central Laboratory, The Affiliated Hospital of Qingdao University, 1677 Wutaishan Road, Qingdao 266555, China.
2
Department of Nephrology, the Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao 266003, China.
3
Laboratory of Genetics of Rare Diseases, EA7402, University of Montpellier, F-34000, France.
4
Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Circ. Gianicolense, 87, Padiglione Morgagni 00152, Rome, Italy.
5
Urology, Affiliated Hospital, Qingdao University, Qingdao 266003, China.

Abstract

Familial renal glycosuria (FRG) is caused by mutations in the SLC5A2 gene, which codes for Na+-glucose co-transporters 2 (SGLT2). 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 > C, p.K131N; c.1003A > G, p.S335G; c.1343A > G, p.Q448R; c.1420G > C, p.A474P; c.1739G > A, 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.

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