Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2

详细信息	查看全文 | 推荐本文 |

• 作者：Ashley H. Shoemaker^a ; ^{ashley.h.shoemaker@vanderbilt.edu} ; Jozef Zienkiewicz^b ; Daniel J. Moore^a
• 关键词：MODY ; Glucokinase ; HNF1A protein
• 刊名：Diabetes Research and Clinical Practice
• 出版年：2012
• 期刊代码：78_01688227
• 类别：med
• 出版时间：May, 2012
• 卷：96
• 期：2
• 页码：e36-e39
• 文件大小：516 K

摘要

A child with impaired fasting glucose was found to be heterozygous for a novel variant at c.659G>A in GCK and a variant at c.1663C>T in HNF1A. Structural modeling and clinical correlation suggests that the GCK variant causes monogenic diabetes while the variant in HNF1A is unlikely to be pathogenic.