کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2796951 1155628 2012 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
پیش نمایش صفحه اول مقاله
Phenotypic heterogeneity in Chinese patients with hepatocyte nuclear factor-1β mutations
چکیده انگلیسی

Aims/hypothesisThe aim of this study was to investigate clinical spectrum of hepatocyte nuclear factor-1β (HNF-1β) mutation in Chinese diabetic patients with renal dysfunction and/or structure abnormalities.Materials and methodsA total of 104 diabetic patients with renal structural abnormalities and/or non-diabetic renal dysfunction were recruited and HNF-1β mutation was screened by direct sequencing.ResultsThree heterozygous missense mutations including c.494G>A (p.R165H), c.662A>T (p.D221V) and c.780G>C (p.E260D) were identified. Progression of diabetes and mild decline of renal function were observed in the mutation carriers during the follow-up. The p.R165H mutation carrier had severe β-cell dysfunction and different extrapancreatic phenotypes. Compared with type 2 diabetes and normoglycemics, the p.R165H mutation carrier had a lower basal C-peptide (0.30, 0.61 ± 0.07 and 0.50 ± 0.04 nmol/L for p.R165H, type 2 diabetes and normoglycemics, respectively) and low values of acute C-peptide response to arginine (0.15, 0.48 ± 0.18 and 0.76 ± 0.08 nmol/L for p.R165H, type 2 diabetes and normoglycemics, respectively).ConclusionPatients with the HNF-1β mutation in our population can have different pancreatic and extrapancreatic phenotypes. The exact contributions of mutations to the phenotypes await functional confirmation.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Diabetes Research and Clinical Practice - Volume 95, Issue 1, January 2012, Pages 119–124
نویسندگان
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