지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 37 - 41 (5page)
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초록· 키워드
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Purpose: Familial renal glucosuria (FRG, OMIM #233100) is a rare but relatively benign genetic condition characterized by persistent isolated glucosuria with a normal blood glucose level. We report three additional SLC5A2 mutations and examine their phenotypic and genetic characteristics in a Korean FRG cohort. We also reviewed the literature and summarized the genotypes of all Korean patients with FRG. Methods: A genetic analysis was conducted by directly sequencing all 14 exons of the SLC5A2 gene and their flanking regions in six unrelated Korean children with FRG and their family members. Novel non-synonymous single-nucleotide polymorphisms were identified and compared with known mutations that are repeatedly detected in the Korean population. Results: We found two novel mutations [c.274G>A (G92S) and c.1168C>T (L390F)] and one known [c.1382G>A (S461N)] mutation in each family and one recurrent mutation [c.1346G>A (G449D) (rs768392222)] in two pedigrees. The recurrent G449D was predicted to be “possibly damaging,” with a score of 0.883 in Polyphen- 2, while G92S, L390F, and S461N were predicted to be “probably damaging,” with scores of 1.000, 0.999, and 0.996, respectively. Conclusions: Two novel, one previously reported, and one recurrent mutation were identified in six Korean FRG pedigrees as causative mutations of renal glucosuria. Sequence variations in the SLC5A2 gene were frequently detected in children with persistent isolated glucosuria. A long-term follow-up of this FRG cohort is needed to understand how these specific SGLT2 mutations impair kidney function and energy homeostasis.
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참고문헌 (24)
참고문헌 신청
Santer R / 2003 / Molecular analysis of the SGLT2 gene in patients with renal glucosuria / J Am Soc Nephrol 14:2873~2882
Van den Heuvel LP / 2002 / Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) / Hum Genet 111:544~547
Santer R / 2010 / Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target / Clin J Am Soc Nephrol 5:133~141
Elsas LJ / 1969 / Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine / J Clin Invest 48:1845~1854
Kanai Y / 1994 / The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose / J Clin Invest 93:97~404
Van den Heuvel LP / 2002 / Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2) / Hum Genet 111:544~547
Santer R / 2010 / Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target / Clin J Am Soc Nephrol 5:133~141
Elsas LJ / 1969 / Familial renal glycosuria: a genetic reappraisal of hexose transport by kidney and intestine / J Clin Invest 48:1845~1854
Kanai Y / 1994 / The human kidney low affinity Na+/glucose cotransporter SGLT2. Delineation of the major renal reabsorptive mechanism for D-glucose / J Clin Invest 93:97~404
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