First Japanese Family with PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications

First Japanese Family with PDX1-MODY (MODY4): A Novel PDX1 Frameshift Mutation, Clinical Characteristics, and Implications

Context: The PDX1 gene encodes pancreatic and duodenal homeobox, a critical transcription factor for pancreatic β-cell differentiation and maintenance of mature β-cells. Heterozygous loss-of-function mutations cause PDX1-MODY (MODY4). Case Description: Our patient is an 18-year-old lean man who deve...

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Bibliographic Details
Main Authors: Aizawa-Abe, M. (Author), Enya, M. (Author), Hamasaki, A. (Author), Honjo, S. (Author), Horikawa, Y. (Author), Hosomichi, K. (Author), Iwasaki, K. (Author), Iwasaki, Y. (Author), Keidai, Y. (Author), Kubota, S. (Author), Yabe, D. (Author), Yoshiji, S. (Author)
Format: Article
Language:English
Published: Endocrine Society 2022
Subjects:
adult
Article
birth weight
body mass
body weight
case report
clinical article
copy number variation
diabetes mellitus
dizygotic twins
food intake
frameshift mutation
gastric inhibitory polypeptide
genetic screening
gestational age
gliclazide
glucagon like peptide 1
glucose intolerance
glucose tolerance
glycemic control
HEK293 cell line
hemoglobin A1c
hepatocyte nuclear factor 1alpha
hepatocyte nuclear factor 1beta
hepatocyte nuclear factor 4alpha
high throughput sequencing
human
impaired glucose tolerance
in vitro study
incretin
insulin
insulin release
inwardly rectifying potassium channel subunit Kir6.2
Japanese (people)
ketoacidosis
loss of function mutation
male
maturity onset diabetes of the young 4
maturity-onset diabetes of the young type 4
medical history
MODY
monotherapy
neurogenic differentiation factor
non insulin dependent diabetes mellitus
obesity
onset age
oral glucose tolerance test
PDX1
phenotype
Sanger sequencing
sitagliptin
transactivation
transcription factor PAX4
transcription factor PDX 1
treatment response
whole exome sequencing
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