Dataset Information

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, 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.

SUBMITTER: Zhang D

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

REPOSITORIES: biostudies-literature

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Publications

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

Zhang Di D Chen Congli C Yang Wenli W Piao Yurong Y Ren Li L Sang Yanmei Y

Medicine 20221201 51

<h4>Rationale</h4>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).<h4>Patient concern</h4>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 w ...[more]

PMID: 36595822

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Dataset Information

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

Rationale

Patient concern

Diagnose

Intervention

Outcomes

Lessons

Publications

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

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