title: Clinical assessment of HNF1A and GCK variants and identification of a novel mutation causing MODY2.
abstract: 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.
authors.affiliation: Department of Pediatrics, Vanderbilt University, Nashville, TN 37232, USA. ashley.h.shoemaker@vanderbilt.edu
authors.forename: Ashley H
authors.initials: AH
authors.lastname: Shoemaker
authors.forename: Jozef
authors.initials: J
authors.lastname: Zienkiewicz
authors.forename: Daniel J
authors.initials: DJ
authors.lastname: Moore
mesh_terms: D000293:Adolescent; D003924:Diabetes Mellitus, Type 2 / Q000209:etiology* / Q000235:genetics*; D005260:Female; D005941:Glucokinase / Q000235:genetics*; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: D051538:Hepatocyte Nuclear Factor 1-alpha; D005941:Glucokinase