<i>GCK</i> mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature

Xiao, Yu; Xu, Xiao Hua; Fang, Yuan; Jiang, Liqiong; Chen, Chun; Li, Liang; Wang, Chun Lin

doi:10.1515/jpem-2015-0354

Cited by 8 publications

(2 citation statements)

References 7 publications

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“…We found GCK mutations in nine out of eleven children with asymptomatic hyperglycaemia in our hospital cohort. There is a recent report from another children’s hospital in China, where three families with genetically confirmed MODY2 were diagnosed in over a year, two probands were children with asymptomatic hyperglycaemia and had abnormal OGTT [ 18 ]. These observations suggest that GCK mutations may be a common cause of asymptomatic hyperglycaemia in Chinese children.…”

Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)

Ting

Sheng

et al. 2018

BMC Pediatr

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BackgroundThere is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecular characteristics of Chinese children with GCK-MODY.MethodsEleven children with asymptomatic hyperglycemia and clinically suspected GCK-MODY were identified from the database of children with diabetes in the biggest children’s hospital in South China. Clinical data were obtained from medical records. Blood was collected from the patients and their parents for glucokinase (GCK) gene analysis. Parents without diabetes were tested for fasting glucose and HbA1c. Clinical information and blood for GCK gene analysis were obtained from grandparents with diabetes. GCK gene mutational analysis was performed by polymerase chain reaction and direct sequencing. Patients without a GCK gene mutation were screened by targeted next-generation sequencing (NGS) technology for other MODY genes.ResultsNine children tested positive for GCK gene mutations while two were negative. The nine GCK-MODY patients were from unrelated families, aged 1 month to 9 years and 1 month at first detection of hyperglycaemia. Fasting glucose was elevated (6.1–8.5 mmol/L), HbA1c 5.2–6.7% (33.3–49.7 mmol/mol), both remained stable on follow-up over 9 months to 5 years. Five detected mutations had been previously reported: p.Val182Met, c.679 + 1G > A, p.Gly295Ser, p.Arg191Gln and p.Met41Thr. Four mutations were novel: c.483 + 2 T > A, p.Ser151del, p.Met57GlyfsX29 and p.Val374_Ala377del. No mutations were identified in the other two patients, who were also tested by NGS.ConclusionsGCK gene mutations are detected in Chinese children and their family members with typical clinical features of GCK-MODY. Four novel mutations are detected.

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Section: Discussionmentioning

confidence: 99%

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)

Ting

Sheng

et al. 2018

BMC Pediatr

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“…4) R191W: This variant has been reported in patients and families with clinical feature of GCK-MODY (supplementary ref 18,19,23,25). The functional studies showed that R191W was kinetically inactivating, with a decreased rate of catalysis and decreased affinity for glucose (supplementary ref 25).…”

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A Comparison of Daily Glucose Fluctuation Between GCK-MODY and Type 2 Diabetes Using Continuous Glucose Monitoring Technology

et al. 2023

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Glucokinase variant-induced maturity-onset diabetes of the young (GCK-MODY) exhibits the unique clinical features of mild fasting hyperglycaemia. However, formal studies of its glucose excursion pattern in daily life in comparison with those with or without other types of diabetes are lacking. We conducted a case-control study including 25 patients with GCK-MODY, 25 A1c-matched, drug naive patients with type 2 diabetes (T2DM) and 25 age-, BMI- and sex-matched subjects with normal glucose tolerance (NGT). All the subjects wore flash glucose monitoring (FGM) sensors for 2 weeks, and glucose readings were masked. Glucose excursion was significantly lower in the GCK-MODY than that in A1c-matched T2DM during the daytime, but was similar during the nighttime. The daytime coefficient of variation [CV] driven by postprandial glucose could separate GCK-MODY from well-controlled T2DM, but the nighttime CV could not. In discriminating between GCK-MODY and T2DM, the area under the curve (AUC) of the CV was 0.875. However, in GCK-MODY and NGT subjects, the CVs were similar at 24h, whereas the other four excursion parameters were significantly higher in GCK-MODY than those in NGT subjects. FGM confirmed the stability and mildness of hyperglycemia in GCK-MODY patients. Postprandial regulation is a key driver of the difference in excursion between GCK-MODY and T2DM.

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New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey

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et al. 2021

Int J Diabetes Dev Ctries

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GCK mutations in Chinese MODY2 patients: a family pedigree report and review of Chinese literature

Abstract: The thorough investigation of three Chinese families with MODY2 revealed two novel mutations and one known mutation. GCK gene sequencing helps in MODY2, especially when there is uncertain IFG or IGT.

Cited by 8 publications

References 7 publications

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)

Genetic and clinical characteristics of Chinese children with Glucokinase-maturity-onset diabetes of the young (GCK-MODY)

A Comparison of Daily Glucose Fluctuation Between GCK-MODY and Type 2 Diabetes Using Continuous Glucose Monitoring Technology

New results for monogenic diabetes with analysis of causative genes using next-generation sequencing: a tertiary centre experience from Turkey

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