C.487C>T mutation in PAX4 gene causes MODY9: A case report and literature review

Medicine (Baltimore). 2022 Dec 23;101(51):e32461. doi: 10.1097/MD.0000000000032461.


Rationale: Maturity-onset diabetes of the young (MODY) is a group of autosomal dominant monogenic diabetes mellitus with a wide range of clinical manifestations that require distinct treatment strategies. MODY9 (OMIM # 612225) is a rare type of MODY, caused by a mutation in the Paired box gene 4 (PAX4).

Patient concern: A 19-months boy was admitted to the department of endocrinology at Beijing Children's Hospital due to excessive water drinking, polyuria for over half a month, and wheezing for 3 days.

Diagnose: The whole-exon sequencing analysis demonstrated that the child carried the heterozygous missense mutation of c.487>T in the 7th exon region of PAX4 gene and diagnosed MODY9.

Intervention: The patient was treated with fluid therapy, ketosis correction, insulin, and anti-infection treatment.

Outcomes: After 17 days in the hospital, the blood glucose levels remained stable and the patient was discharged.

Lessons: In Chinese children, the heterozygous mutation of c.487C>T in the PAX4 gene can lead to the occurrence of MODY9.Gene sequencing analysis is of great significance in the diagnosis and classification of MODY.

Publication types

  • Review
  • Case Reports

MeSH terms

  • Child
  • Diabetes Mellitus, Type 2* / genetics
  • Homeodomain Proteins / genetics
  • Humans
  • Insulin
  • Male
  • Mutation
  • Mutation, Missense
  • Paired Box Transcription Factors / genetics


  • Insulin
  • PAX4 protein, human
  • Homeodomain Proteins
  • Paired Box Transcription Factors

Supplementary concepts

  • Mason-Type Diabetes
  • Maturity-Onset Diabetes Of The Young, Type 9