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

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. 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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https://hal.umontpellier.fr/hal-02436517
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Soumis le : lundi 13 janvier 2020 - 10:26:17
Dernière modification le : vendredi 17 janvier 2020 - 01:23:54

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Xiangzhong Zhao, Li Cui, Yanhua Lang, Ting Liu, Jingru Lu, et al.. A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. Scientific Reports, Nature Publishing Group, 2016, 6 (1), ⟨10.1038/srep33920⟩. ⟨hal-02436517⟩

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