ABCMdb

PMID: 17446535

Flanagan SE, Patch AM, Mackay DJ, Edghill EL, Gloyn AL, Robinson D, Shield JP, Temple K, Ellard S, Hattersley AT
Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
Diabetes. 2007 Jul;56(7):1930-7. Epub 2007 Apr 19., [PubMed]

Sentences

No. Mutations Sentence Comment

71 ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Leu451Pro ABCC8 p.Val324Met ABCC8 p.Asp212Asn Ten different ABCC8 gene mutations were identified in 13 probands: D209E (c.627CϾA), D212N (c.634GϾA), D212I (c.634 GϾA 635AϾT), V324M (c.970GϾA), L451P (c.1352TϾC), R826W (c.2476CϾT), R1183W (c.3547CϾT), R1183Q (c.3548GϾA), R1380C (c.4138CϾT), and R1380H (c.4139GϾA). Login to comment 72 ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Leu451Pro ABCC8 p.Val324Met ABCC8 p.Asp212Asn Ten different ABCC8 gene mutations were identified in 13 probands: D209E (c.627Cb0e;A), D212N (c.634Gb0e;A), D212I (c.634 Gb0e;A 635Ab0e;T), V324M (c.970Gb0e;A), L451P (c.1352Tb0e;C), R826W (c.2476Cb0e;T), R1183W (c.3547Cb0e;T), R1183Q (c.3548Gb0e;A), R1380C (c.4138Cb0e;T), and R1380H (c.4139Gb0e;A). Login to comment 107 ABCC8 p.Asp212Ile Muscle weakness was identified in two cousins with a D212I mutation. Login to comment 108 ABCC8 p.Asp212Ile Muscle weakness was identified in two cousins with a D212I mutation. Login to comment 123 ABCC8 p.Asp209Glu All patients were treated with insulin during their initial episode of diabetes and during any subsequent relapse of diabetes, except for one proband and his father with a KCNJ11 mutation (E227K), a father with a KCNJ11 mutation (E229K), and a mother with an ABCC8 mutation (D209E), who were treated with sulfonylureas. Login to comment 124 ABCC8 p.Asp209Glu All patients were treated with insulin during their initial episode of diabetes and during any subsequent relapse of diabetes, except for one proband and his father with a KCNJ11 mutation (E227K), a father with a KCNJ11 mutation (E229K), and a mother with an ABCC8 mutation (D209E), who were treated with sulfonylureas. Login to comment 138 ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Leu451Pro ABCC8 p.Val324Met ABCC8 p.Asp212Asn TABLE 3 Comparison of clinical and biochemical characteristics of patients with a KATP channel mutation diagnosed before 6 months of age with patients whose diabetes was not diagnosed before age 6 months and the number of each mutation identified within each group Characteristic Mutation carriers diagnosed with diabetes within 6 months Mutation carriers who did not have diabetes diagnosed within the first 6 months P value n (% male) 35 (51) 16 (44) 0.75 Probands (n) 25 0 Age when entering study (years) 6 (0.8-43) 42 (5-56) - Ever diagnosed with diabetes (n) 35 7 1*10-6 Age at diagnosis (weeks) 4 (0-17) 1196 (260 to Ͼ2496) 3.7*10-5 Diabetes remitted (n) 32 0/7 3.7*10-10 Age at remission (weeks) 35 (2-208) - - Diabetes relapsed (n) 7 - - Age at relapse (years) 13 (3-25.5) - - Birth weight (g) 2,695 (1,360-3,570) 2,810 (907-3,090) 0.9 Gestation (weeks) 39 (30-42) 38 (34-40) 0.74 Centile birth weight 18 (Ͻ1st to 89th) 15 (Ͻ1st to 79th) 0.94 KCNJ11 mutations R34C 1 2 G53R 2 0 G53S 2 1 E179A 1 0 I182V 1 0 E227K 4 2 E229K 5 3 R365H 1 1 ABCC8 mutations D209E 1 1 D212N 2 1 D212I 4 0 V324M 1 1 L451P 2 1 R826W 1 0 R1183W 4 2 R1183Q 1 0 R1380C 1 0 R1380H 1 1 Data are median (range), unless otherwise indicated. Login to comment 139 ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Leu451Pro ABCC8 p.Val324Met ABCC8 p.Asp212Asn TABLE 3 Comparison of clinical and biochemical characteristics of patients with a KATP channel mutation diagnosed before 6 months of age with patients whose diabetes was not diagnosed before age 6 months and the number of each mutation identified within each group Characteristic Mutation carriers diagnosed with diabetes within 6 months Mutation carriers who did not have diabetes diagnosed within the first 6 months P value n (% male) 35 (51) 16 (44) 0.75 Probands (n) 25 0 Age when entering study (years) 6 (0.8-43) 42 (5-56) - Ever diagnosed with diabetes (n) 35 7 1*10afa;6 Age at diagnosis (weeks) 4 (0-17) 1196 (260 to b0e;2496) 3.7*10afa;5 Diabetes remitted (n) 32 0/7 3.7*10afa;10 Age at remission (weeks) 35 (2-208) - - Diabetes relapsed (n) 7 - - Age at relapse (years) 13 (3-25.5) - - Birth weight (g) 2,695 (1,360-3,570) 2,810 (907-3,090) 0.9 Gestation (weeks) 39 (30-42) 38 (34-40) 0.74 Centile birth weight 18 (b0d;1st to 89th) 15 (b0d;1st to 79th) 0.94 KCNJ11 mutations R34C 1 2 G53R 2 0 G53S 2 1 E179A 1 0 I182V 1 0 E227K 4 2 E229K 5 3 R365H 1 1 ABCC8 mutations D209E 1 1 D212N 2 1 D212I 4 0 V324M 1 1 L451P 2 1 R826W 1 0 R1183W 4 2 R1183Q 1 0 R1380C 1 0 R1380H 1 1 Data are median (range), unless otherwise indicated. Login to comment 171 ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Asp212Asn There are a cluster of mutations (D209E, D212N, and D212I) in the intracellular region that links the transmembrane domain with the gatekeeper module (8). Login to comment 172 ABCC8 p.Asp212Ile ABCC8 p.Asp209Glu ABCC8 p.Asp212Asn There are a cluster of mutations (D209E, D212N, and D212I) in the intracellular region that links the transmembrane domain with the gatekeeper module (8). Login to comment