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.
Congenital hyperinsulinemia (CHI), is a clinically heterogeneous disorder that presents as a major cause of persistent and recurrent hypoglycemia during infancy and childhood. There are 16 subtypes of CHI-related genes. Phosphomannomutase 2 hyperinsulinemia (PMM2-HI) is an extremely rare subtype which is first reported in 2017, with only 18 families reported so far. This review provides a structured description of the genetic pathogenesis, and current diagnostic and therapeutic advances of PMM2-HI to increase clinicians’ awareness of PMM2-HI.
137words Background: MODY13 (Maturity-onset diabetes of the young, type 13) is monogenic diabetes associated with the KCNJ11 mutation rarely reported to date. A patient with c.843C>T(p.L281=) in the KCNJ11 gene is reported only in a Chinese patient with congenital hyperinsulinemia. There is no patient diagnosed with MODY13 carrying a synonymous heterozygous variant in the KCNJ11 reported till now. Method: We followed a 9-year-old boy presenting ketosis and diagnosed with MODY13. Whole-exome sequencing (WES) and Sanger validation were performed on the proband and his parents, respectively. Then bioinformatics software was used to predict the RNA structure and protein function. Result: The clinical characteristics and genetic traits of a 9-year-old boy with MODY13 are described in this study. WES revealed the synonymous heterozygous variant c.843C>T (p.L281=) in the KCNJ11 exon 1 in this patient, which prompted the opposite phenotype previously described. The patient and his mother who carries c.843C>T have morphologically comparable RNA structures of KCNJ11 which is completely separated from his mother. Conclusion: A c.843C>T (p.L281=) variant in the KCNJ11 gene contributes to MODY13. In clinical practice, WES should be applied to diagnose hyperglycemia in patients without characteristic clinical symptoms of diabetes to improve prognosis.
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