ABCMdb

PMID: 21953423

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., [PubMed]

Sentences

No. Mutations Sentence Comment

36 ABCC8 p.Ser459Arg ABCC8 p.Val1523Met 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 ABCC8 p.Val1523Ala ABCC8 p.Ser459Arg ABCC8 p.Val1523Met 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 ABCC8 p.Val1523Ala ABCC8 p.Ser459Arg Mutation ABCC8/S459R appears to be novel. Login to comment 39 ABCC8 p.Ser459Arg Mutation ABCC8/S459R appears to be novel. Login to comment