Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations

Yokota, Ichiro; Moritani, Maki; Nishisho, Kahoru; Miyoshi, Tatsuya; Kotani, Yumiko; Kubo, Shoji

doi:10.1507/endocrj.k11e-062

Cited by 2 publications

(3 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…GCK-MODY causes a mild, asymptomatic diabetes and stable fasting hyperglycemia usually requiring no specific treatment. Generally, the incidence of GCK variants has been reported less frequently than other MODY types in Japanese patients [20]. However, the incidence is mainly based on studies on adult subjects, and this result is similar to those of reports from other Asian populations [31][32][33].…”

Section: Discussionsupporting

confidence: 79%

See 1 more Smart Citation

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

Katashima

Matsumoto

Watanabe

et al. 2021

Journal of Diabetes Research

Self Cite

View full text Add to dashboard Cite

Background. Maturity-onset diabetes of the young (MODY) is commonly misdiagnosed as type 1 or type 2 diabetes. Common reasons for misdiagnosis are related to limitations in genetic testing. A precise molecular diagnosis is essential for the optimal treatment of patients and allows for early diagnosis of their asymptomatic family members. Objective. The aim of this study was to identify rare monogenic variants of common MODY genes in Japanese pediatric patients. Methods. We investigated 45 Japanese pediatric patients based on the following clinical criteria: development of diabetes before 17 years of age, a family history of diabetes, testing negative for glutamate decarboxylase-65 (GAD 65) antibodies and insulinoma-2-associated autoantibodies (IA-2A), no significant obesity, and evidence of endogenous insulin production. Genetic screening for MODY1 (HNF4α), MODY2 (GCK), MODY3 (HNF1α), and MODY5 (HNF1β) was performed by direct sequencing followed by multiplex ligation amplification assays. Results. We identified 22 missense variants (3 novel variants) in 27 patients (60.0%) in the GCK, HNF4α, and HNF1α genes. We also detected a whole exon deletion in the HNF1β gene and an exon 5–6 aberration in the GCK gene, each in one proband (4.4%). There were a total of 29 variations (64.4%), giving a relative frequency of 53.3% (24/45) for GCK, 2.2% (1/45) for HNF4α, 6.7% (3/45) for HNF1α, and 2.2% (1/45) for HNF1β genes. Conclusions. Clinicians should consider collecting and assessing detailed clinical information, especially regarding GCK gene variants, in young antibody-negative patients with diabetes. Correct molecular diagnosis of MODY better predicts the clinical course of diabetes and facilitates individualized management.

show abstract

Section: Discussionsupporting

confidence: 79%

“…Screening for the GCK Gene. We identified 18 missense variants (2 novel and 16 previously described variants [16][17][18][19][20][21][22][23][24][25][26][27] in 23 probands (Table 2). Most of these variants were found in one proband, while G223S and R377S were found in two probands and T228M was identified in four probands.…”

Section: 21mentioning

confidence: 99%

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

Katashima

Matsumoto

Watanabe

et al. 2021

Journal of Diabetes Research

Self Cite

View full text Add to dashboard Cite

show abstract

“…En la Reacción en Cadena de la Polimerasa (PCR), los primers utilizados para la amplificación de cada exón se obtuvieron de la literatura científica 8 . Finalmente se realizó secuenciación bidireccional de tipo Sanger utilizando un equipo de electroforesis capilar ABI PRISM® 3130 (Applied Biosystems).…”

Section: Metodologíaunclassified

Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico

et al. 2017

Rev. méd. Chile

View full text Add to dashboard Cite

Detection of glucokinase gene defects in non-obese Japanese children diagnosed with diabetes by school medical examinations

Cited by 2 publications

References 15 publications

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age

Diabetes mellitus por mutación en el gen de glucokinasa. Caso clínico

Contact Info

Product

Resources

About