지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 1,035 - 1,040 (6page)
이용수
초록· 키워드
오류제보하기
Background Gitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene. Objective The objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations. Methods Next-generation sequencing and Sanger sequencing were performed to explore the mutations of SLC12A3 gene in a GS pedigree that included a 59-year-old male GS patient and a total of 11 family members within three generations. Results A novel compound heterozygous mutation of SLC12A3 gene (c.1712T>C in exon14 and c.2986_2987ins GCT in exon26) was identifed by genetic testing in the proband. Moreover, we demonstrated that two brothers shared the same heterozygous mutation with the proband, but only one brother had the GS related symptoms. His nephew was the carrier of one mutation (c.1712T>C), and one of his brother, his sister and niece were carriers of the other (c.2986_2987ins GCT). Conclusions This is the frst study to report the novel pathogenic compound heterozygous mutation of SLC12A3 gene in GS. Our result further supports the lack of phenotype–genotype correlations in GS. Further functional studies are required to investigate pathophysiologic mechanisms of GS.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
Blanchard A / 2017 / Gitelman syndrome : consensus and guidance from a Kidney Disease : Improving Global Outcomes(KDIGO)Controversies Conference / Kidney Int 91:24~33
Bonfante L / 2001 / Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman’s syndrome / Am J Kidney Dis 38:165~168
Cho YH / 2009 / Long-term outcomes in a family with nephrogenic syndrome of inappropriate antidiuresis / Int J Pediatr Endocrinol 2009:431527
Coto E / 2004 / A new mutation(intron 9 +1 G>T)in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies / Kidney Int 65:25~29
Cruz DN / 2001 / Gitelman’s syndrome revisited : an evaluation of symptoms and health-related quality of life / Kidney Int 59:710~717
Bonfante L / 2001 / Chronic renal failure, end-stage renal disease, and peritoneal dialysis in Gitelman’s syndrome / Am J Kidney Dis 38:165~168
Cho YH / 2009 / Long-term outcomes in a family with nephrogenic syndrome of inappropriate antidiuresis / Int J Pediatr Endocrinol 2009:431527
Coto E / 2004 / A new mutation(intron 9 +1 G>T)in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies / Kidney Int 65:25~29
Cruz DN / 2001 / Gitelman’s syndrome revisited : an evaluation of symptoms and health-related quality of life / Kidney Int 59:710~717
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
The coefficients of inbreeding revealed by ROH study among inbred individuals belonging to each type of the first cousin marriage: A preliminary report from North India
Genes & Genomics
2023 .06
-
내건성 및 BPH 내성 계통의 육성을 위한 농업형질 고정여부 조사
생명과학회지
2020 .09
-
Optimizing Bangkaew dog breed identification using DNA technology
Genes & Genomics
2024 .06
-
국내 증식 양비둘기(Columba rupestris) 개체군 동태 분석
한국조류학회지
2023 .12
-
한우 SNP Chip 및 혈통 데이터를 이용한 경기 한우 암소의 유전능력평가 정확도 분석
생명과학회지
2022 .04
이 논문의 저자 정보
최근 본 자료
댓글(0)
0