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 perso

SUBMITTER: Tang J 

PROVIDER: S-EPMC5240193 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature