KCNJ11 in-frame 15-bp deletion leading to glibenclamide- responsive neonatal diabetes mellitus in a Chinese child
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Wenli Yang
Abstract
The ATP-sensitive K+ channel controls insulin secretion from the islet. Mutations in KCNJ11 can cause permanent and transient neonatal diabetes. To date, more than 30 KCNJ11 mutations have been revealed as related to the onset of neonatal diabetes mellitus (NDM), most of which are responsive to glibenclamide treatment. In the present study, we sequenced the KCNJ11 gene in a Chinese girl diagnosed with NDM and in her parents. An in-frame 15-bp KCNJ11 deletion was identified in the patient, whereas no KCNJ11 deletions were found in her parents, indicating that this deletion was de novo. The patient was responsive to the treatment of glibenclamide. Ten months of follow-up showed that, besides permanent NDM, the motor and intelligence development of the girl was normal and she suffered no onset of convulsions. The result, to some degree, improved our knowledge on NDM.
This work was supported by the National Natural Science Foundation of China (Project No. 81041015) and the Program for Beijing Municipal Health Bureau Higher Excellent Talents, China (Project No. 2011-3-051).
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©2013 by Walter de Gruyter Berlin Boston
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- The influence of carbohydrate quality on cardiovascular disease, the metabolic syndrome, type 2 diabetes, and obesity – an overview
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- NOX, the main regulator in oxidative stress in experimental models of phenylketonuria?
- Changes in growth pattern, leptin ghrelin and neuropeptide Y levels after adenotonsillectomy in prepubertal children
- Impact of inborn errors of metabolism on admission in a neonatal intensive care unit: a 4-year report
- Correlation between bone mineral density measured by peripheral and central dual energy X-ray absorptiometry in healthy Indian children and adolescents aged 10–18 years
- Thyroid-stimulating hormone (TSH) level in nutritionally obese children and metabolic co-morbidity
- Hepatocyte growth factor as an indicator of neonatal maturity
- Pathophysiology of critical illness hyperglycemia in children
- The influence of exposure to maternal diabetes in utero on the rate of decline in β-cell function among youth with diabetes
- Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis
- Abdominal aorta intima media thickness in obese children
- Patient reports
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- Hoffmann’s syndrome and pituitary hyperplasia in an adolescent secondary to Hashimoto thyroiditis
- Late diagnosis of Cushing’s disease in a child: what lessons can be learned?1)
- Variable phenotype in five patients with Wolcott-Rallison syndrome due to the same EIF2AK3 (c.1259delA) mutation
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- A previously undescribed mutation detected by sequence analysis of CYP21A2 gene in an infant with salt wasting congenital adrenal hyperplasia
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- Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency
- Duplication of dosage sensitive sex reversal area in a 46, XY patient with normal sex determining region of Y causing complete sex reversal
- The search for ectopic ACTH production in a 9-year-old boy
- Development of antibodies against growth hormone (GH) during rhGH therapy in a girl with idiopathic GH deficiency: a case report
- Ovotesticular disorder of sexual development and a rare 46,XX/47,XXY karyotype
- Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism
- Letters to the Editors
- How much truth is there in the association between endometriosis and atherosclerosis?
- Delayed cord clamping in plethoric term neonates of diabetic mothers: friend or foe?
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