대한신장학회

간행물 검색

현재 페이지 경로

논문분류	춘계학술대회 초록집
제목	The functional consequence of S148L HNF1B mutation as a cause of bilateral renal hypodysplasia with MODY5
저자	Kyoug Hee Han1, Hee Gyung Kang2, Joo Hoon Lee3, Il-Soo Ha2, Young Seo Park3, Hae Il Cheong2
출판정보	2018; 2018(1):
키워드	Renal hypodysplasia \| Maturity-Onset Diabetes of the \| hepatocyte nuclear factor 1-bet
초록	Case Study: Maturity-onset diabetes of the young (MODY), which is known as monogenic diabetes, refers to autosomal dominant forms of diabetes mellitus involving multiple genes. According to the related genes with a principal role in the pancreatic β-cell development or insulin secretion, MODY is classified into 13 subtypes. The mutation of hepatocyte nuclear factor 1β (HNF1B) results in MODY5 associated with congenital anomalies of the kidney and urinary tract. We conducted the mutational analysis of the HNF1B gene in a child of ESRD with bilateral renal hypodysplasia and MODY and found a heterozygous S148L HNF1B mutation. And we evaluated the functional consequences of HNF1B mutation through in vitro study. It suggests that kidney and pancreas were differently affected in the S148L of HNF1B. The S148L mutant can cause problems with tissue-specificity of their gene expression to affect the binding affinity and specificity of DNA binding.
원문(PDF)	PDF 원문보기

간행물 검색