ABCC8 p.Arg285Gln
| Predicted by SNAP2: | A: N (53%), C: D (59%), D: D (71%), E: D (66%), F: N (53%), G: D (53%), H: N (57%), I: N (53%), K: N (72%), L: N (53%), M: N (57%), N: N (61%), P: N (61%), Q: N (57%), S: N (61%), T: N (57%), V: N (53%), W: D (71%), Y: D (63%), |
| Predicted by PROVEAN: | A: N, C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] Diagnosis and treatment of neonatal diabetes: a Un... Pediatr Diabetes. 2008 Oct;9(5):450-9. Epub 2008 Jul 25. Stoy J, Greeley SA, Paz VP, Ye H, Pastore AN, Skowron KB, Lipton RB, Cogen FR, Bell GI, Philipson LH
Diagnosis and treatment of neonatal diabetes: a United States experience.
Pediatr Diabetes. 2008 Oct;9(5):450-9. Epub 2008 Jul 25., [PMID:18662362]
Abstract [show]
BACKGROUND/OBJECTIVE: Mutations in KCNJ11, ABCC8, or INS are the cause of permanent neonatal diabetes mellitus in about 50% of patients diagnosed with diabetes before 6 months of age and in a small fraction of those diagnosed between 6 and 12 months. The aim of this study was to identify the genetic cause of diabetes in 77 consecutive patients referred to the University of Chicago with diabetes diagnosed before 1 yr of age. METHODS: We used Oragene DNA Self-Collection kit to obtain a saliva sample for DNA. We sequenced the protein-coding regions of KCNJ11, ABCC8, and INS using standard methods. RESULTS: We enrolled 32 patients diagnosed with diabetes before 6 months of age and 45 patients diagnosed between 6 and 12 months. We identified a mutation in KCNJ11 in 14 patients from 12 families and in INS in 7 patients from 4 families. Three of the patients with an INS mutation were diagnosed with diabetes between 6 and 12 months of age. Finally, we found that two patients had an abnormality of chromosome 6q24 associated with transient neonatal diabetes mellitus. CONCLUSIONS: We were able to establish a genetic cause of diabetes in 63% of patients diagnosed with diabetes before 6 months of age and in 7% of patients diagnosed between 6 and 12 months. Genetic testing, which is critical for guiding appropriate management, should be considered in patients diagnosed with diabetes before 1 yr of age, especially if they are autoantibody negative, although the presence of autoantibodies does not rule out a monogenic cause.
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No. Sentence Comment
63 In a patient with Down`s syndrome, thyroid dysfunction, and diabetes diagnosed at 18 d of age, we identified a missense mutation in ABCC8, R285Q.
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ABCC8 p.Arg285Gln 18662362:63:139
status: NEW198 Three patients had other autoimmune diseases: celiac disease in one patient and thyroid dysfunction in two patients who also had Down`s syndrome (one of the patients was the carrier of the ABCC8 variant, R285Q).
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ABCC8 p.Arg285Gln 18662362:198:204
status: NEW