ABCMdb

ABCC8 p.Ser459Arg

Predicted by SNAP2:	A: N (57%), C: D (59%), D: D (75%), E: D (80%), F: D (80%), G: N (57%), H: D (71%), I: D (71%), K: D (80%), L: D (75%), M: D (71%), N: D (66%), P: D (53%), Q: D (71%), R: D (80%), T: N (66%), V: D (75%), W: D (75%), Y: D (75%),
Predicted by PROVEAN:	A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: N, Q: D, R: D, T: N, V: D, W: D, Y: D,

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[hide] Minimal incidence of neonatal/infancy onset diabet... Acta Diabetol. 2011 Sep 28. Iafusco D, Massa O, Pasquino B, Colombo C, Iughetti L, Bizzarri C, Mammi C, Lo Presti D, Suprani T, Schiaffini R, Nichols CG, Russo L, Grasso V, Meschi F, Bonfanti R, Brescianini S, Barbetti F
Minimal incidence of neonatal/infancy onset diabetes in Italy is 1:90,000 live births.
Acta Diabetol. 2011 Sep 28., [PMID:21953423]

Abstract [show]
Until early 2000, permanent and transient neonatal diabetes mellitus (NDM), defined as diabetes with onset within 6 weeks from birth that requires insulin therapy for at least 2 weeks, were considered exceedingly rare conditions, with a global incidence of 1:500,000-1:400,000 live births. The new definition of NDM recently adopted, that includes patients with diabetes onset within 6 months of age, has prompted studies that have set the incidence of the permanent form alone between 1:210,000 and 1:260,000 live births. Aim of the present work was to ascertain the incidence of NDM (i.e. permanent + transient form) in Italy for years 2005-2010. Patients referred to the Italian reference laboratory for NDM between years 2005 and 2010 and screened for mutations in common NDM genes (KCNJ11, ABCC8, and INS) and for uniparental isodisomy of chromosome 6 (UDP6) were reviewed. A questionnaire aimed at identifying NDM cases investigated in other laboratories was sent to 54 Italian reference centers for pediatric diabetes. Twenty-seven patients with NDM born between 2005 and 2010 were referred to the reference laboratory. In this group, a mutation of either KCNJ11, ABCC8 or INS was found in 18 patients, and a case with UDP6 was identified. Questionnaires revealed 4 additional cases with transient neonatal diabetes due to UDP6. Incidence of NDM was calculated at 1:90,000 (CI: 1:63,000-1:132,000) live births. Thus, with the definition currently in use, about 6 new cases with NDM are expected to be born in Italy each year.

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No. Sentence Comment
36 In patients with NDM, we identified a causative mutation in 11 cases with permanent diabetes (7 KCNJ11 and 4 INS) (3,4; and the frequent KCNJ11/R201H mutation in a patient born in September 2010) and 7 with transient diabetes (mutations: ABCC8/ S459R, ABCC8/R1380C, ABCC8/V1523M, KCNJ11/ R50Q (twice), KCNJ11/E229K, and 1 case with UDP6). Login to comment
37 Transient neonatal diabetes mutations KCNJ11/R50H, KCNJ11/E229K, and ABCC8/R1380C have been previously reported [14], while ABCC8 mutations in same residue as ours, but with different amino acid change such as V1523A/L have been described associated with permanent neonatal diabetes [14]. Login to comment
38 Mutation ABCC8/S459R appears to be novel. Login to comment
39 Mutation ABCC8/S459R appears to be novel. Login to comment