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

ABSTRACT:

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, insuli

SUBMITTER: Zhang D 

PROVIDER: S-EPMC9794226 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature