title: A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.
abstract: We reported a novel nonsense mutation, R54X of the hepatic nuclear factor 1α (HNF1α) gene in a Chinese family. The mutation was identified in a 47 years old woman and her 19 years old daughter within a five-family members tested. Both the two patients were sensitive to insulin and glibenclamide treatments.
authors.affiliation: Department of Endocrinology, 2nd Affiliated Hospital of Soochow University, Suzhou 215004, China.
authors.forename: Chen
authors.initials: C
authors.lastname: Fang
authors.affiliation: School of Basic Medicine and Biological Sciences, Medical College of Soochow University, Suzhou 215123, China.
authors.forename: Jian
authors.initials: J
authors.lastname: Huang
authors.affiliation: Department of Endocrinology, 2nd Affiliated Hospital of Soochow University, Suzhou 215004, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Huang
authors.affiliation: Department of Endocrinology, Children's Hospital of Soochow University, Suzhou 215003, China.
authors.forename: Linqi
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Endocrinology, Children's Hospital of Soochow University, Suzhou 215003, China.
authors.forename: Xiuli
authors.initials: X
authors.lastname: Chen
authors.affiliation: Department of Endocrinology, 2nd Affiliated Hospital of Soochow University, Suzhou 215004, China. Electronic address: huji@suda.edu.cn.
authors.forename: Ji
authors.initials: J
authors.lastname: Hu
mesh_terms: D002681:China; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D005260:Female; D051538:Hepatocyte Nuclear Factor 1-alpha / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D055815:Young Adult
chemical_list: D018389:Codon, Nonsense; D051538:Hepatocyte Nuclear Factor 1-alpha
keywords: Hepatocyte nuclear factor 1-alpha; Maturity-onset diabetes of the young, type 3; Nonsense mutation