Dataset Information

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.

ABSTRACT:

Introduction

Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene.

Case presentation

A pair of father and son was examined after admission to the hospital and a whole exome test performed. Whole exome test showed that there was a mutation c.685G>A:p.E229K in the KCNJ11 gene encoding a potassium channel, KCNJ11.

Conclusions

The diagnosis of MODY13 requires genetic testing. After confirmation, medication and diet need to be adjusted to control blood glucose. The treatment plan was adjusted. After glimepiride was administered, symptoms of diabetes were effectively improved. According to our knowledge, this is the first reported mutation of c.685G>A:p.E229K in the KCNJ11 gene.

SUBMITTER: Song X

PROVIDER: S-EPMC9524910 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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Publications

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.

Song Xinjie X Cao Yonghong Y Ye Jun J Dai Wu W Zhang Suwan S Ye Shuai S

Medicine 20220901 39

<h4>Introduction</h4>Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene.<h4>Case presentation</h4>A pair of father and son was examined after admission to the hospital and a whole exome test performed. Whole exome test showed that there was a mutation c.685G>A:p.E229K in the KCNJ11 gene encoding a potassi ...[more]

PMID: 36181023

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Project description:BackgroundWe aimed to analyze a novel ABCC8 variant of a Chinese patient with suspected maturity-onset diabetes of the young (MODY) and to provide evidence for precise diagnosis and appropriate treatment.MethodA Chinese family with suspected MODY was recruited in this study, which included a 15-year-old female patient with diabetes. Clinical data and blood samples were collected from the proband and other family members. All of the living relatives were given an oral glucose tolerance test. Next-generation sequencing was performed to identify the mutated genes in the proband. Sanger sequencing was utilized to confirm the location of the pathogenic variant in all subjects. Further treatment was referred to targeted family members according to genetic testing.ResultsThe proband was found to have a random blood glucose level of 244.8 mg/dl and an HbA1c level of 9.2%. Before this investigation, her grandparents had been diagnosed with diabetes. The second uncle, two aunts, mother, and cousin of the proband were diagnosed with diabetes by abnormal HbA1C (6.5-12.1%) and fasting blood glucose (FBG, 91.4-189.7 mg/dl). The second aunt of the proband had impaired glucose homeostasis (HbA1C = 6.4% and FBG = 88.0 mg/dl). One novel missense variant c.1432G>A (p.A478T) in exon 9 of the ABCC8 gene was detected in the proband with suspected MODY. The variant was also found in six family members with diabetes or impaired glucose homeostasis, including her second uncle, two aunts, mother, and cousin. After the treatment was switched to glimepiride, the fasting blood glucose was adjusted to 99.54 mg/dl, the 2-h postprandial blood glucose was 153.54 mg/dl, serum fructosamine was 259 μmol/l, and HbA1c was 5.8%. The glycemic control remained optimal, and no hypoglycemic episodes were observed in the living relatives.ConclusionThis study revealed one novel missense variant of the ABCC8 gene in Chinese families. The present findings indicated that the members of this family responded to treatment with sulfonylureas as previously seen in ABCC8 MODY.

Dataset Information

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.

Introduction

Case presentation

Conclusions

Publications

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.

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