title: Genetic diagnosis and treatment of a Chinese ketosis-prone MODY 3 family with depression.
abstract: BACKGROUND
  To analyze the gene mutation and mental disorder of a Chinese ketosis-prone diabetes (KPD) family, and to make a precise diagnosis and give a treatment for them.
  
  
  METHODS
  We studied a Chinese family with a clinical diagnosis of maturity-onset diabetes of the young (MODY). The clinical data and the blood samples were collected. The promotor and coding regions inclusive intron exon boundaries of the HNF1A, HNF4A were detected by polymerase chain reaction (PCR) and direct sequencing. The missense mutation was also analyzed by bioinformatics. Genetic counseling was performed twice a month to relieve the mental disorder of the persons.
  
  
  RESULTS
  The missense mutation c.779 C>T (p.T260M) in exon4 of HNF1A gene was detected, and the symptom heterogenicity among persons in this family were found. All the members were retreated with Gliclazide and stopped to use other medicine, the blood glucose of them were well controlled. We also performed an active genetic counseling to them and the mental disorder of the proband's sister was relieved.
  
  
  CONCLUSIONS
  A missense mutation of HNF1A gene was first found in Chinese ketosis-prone MODY family with manifestations heterogenicity among the persons. Sulphonylureas medicine and genetic counseling are efficiency ways to treat MODY 3 and its' mental disorder respectively.
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Tang
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Chen-Yi
authors.initials: CY
authors.lastname: Tang
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Fang
authors.initials: F
authors.lastname: Wang
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Yue
authors.initials: Y
authors.lastname: Guo
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Hao-Neng
authors.initials: HN
authors.lastname: Tang
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Ci-La
authors.initials: CL
authors.lastname: Zhou
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Shu-Wen
authors.initials: SW
authors.lastname: Tan
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Shi-Ping
authors.initials: SP
authors.lastname: Liu
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Zhi-Guang
authors.initials: ZG
authors.lastname: Zhou
authors.affiliation: Department of Metabolism and Endocrinology, National Clinical Research Center for Metabolic Disease, The Second Xiang-Ya Hospital of Central South University, 139 Middle Ren-Min Road, Changsha, China.
authors.forename: Hou-De
authors.initials: HD
authors.lastname: Zhou
keywords: HNF1A; Ketosis-prone diabetes; MODY; Mental health