ABCMdb

PMID: 25008049

Sang Y, Xu Z, Liu M, Yan J, Wu Y, Zhu C, Ni G
Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
Endocr J. 2014;61(9):901-10. Epub 2014 Jul 8., [PubMed]

Sentences

No. Mutations Sentence Comment

11 ABCC8 p.Arg1217Lys ABCC8 p.Asp1505His We found a novel de novo ABCC8 mutation, p. C1000*, a novel paternally inherited ABCC8 mutation, D1505H, and a dominantly inherited ABCC8 mutation, R1217K. Login to comment 59 ABCC8 p.Trp288* In patient 4, a paternally inherited heterozygous mutation c.863G>A was found in the 6th exon of the ABCC8 gene, which leads to the termination of the amino acid translation at the 288 residue of SUR1 (p.W288*). Login to comment 60 ABCC8 p.Arg495Gln ABCC8 p.Arg1493Gln Patients 15 and 20 carry mutations in R1493Q and R495Q mutations, respectively (Supplementary Fig. 1A and 1B, respectively). Login to comment 61 ABCC8 p.Ala640Val ABCC8 p.Gln1196* Sequencing analysis identified a compound heterozygous mutation in ABCC8 in patient 5, who was a carrier for the mutation A640V jointly with the paternally inherited mutation p.Q1196*. Login to comment 62 ABCC8 p.Arg1217Lys A novel missense heterozygous inactive ABCC8 mutation R1217K (Supplementary Fig. 1C) was identified in patient 14, which was maternally inherited. Login to comment 63 ABCC8 p.Gln474Arg ABCC8 p.Asp1505His ABCC8 p.Arg598* ABCC8 p.Cys1000* A paternally inherited mutation, p.C1000*, was found in patient 21 (Supplementary Fig. 1D), whereas the de novo mutations D1505H, Q474R and p.R598* were found in patient 22 (Supplementary Fig. 1E), 26 (Supplementary Fig. 1F) and 30 (Supplementary Fig. 1G), respectively. Login to comment 76 ABCC8 p.Gln474Arg ABCC8 p.Arg495Gln ABCC8 p.Arg1493Gln ABCC8 p.Arg1217Lys ABCC8 p.Asp1505His ABCC8 p.Trp288* ABCC8 p.Ala640Val ABCC8 p.Gln1196* ABCC8 p.Arg598* ABCC8 p.Cys1000* Parent of origin Mutations 1* F 1 4.7 2.02 14.33 38 N N N P629PfsX17 Parental ABCC8 -C1887delc 2 M 3 3.5 1.52 17.4 128 N - - - - - 3 M 1 5.2 2.45 16.69 29 N - - - - - 4* M 1 4.4 2.54 34.96 128 N N N p.W288* Paternal ABCC8 -c.863G>A 5* F 165 4.2 1.8 9 77 N N Y A640V De Novo ABCC8 -c.1919C>T p.Q1196* Paternal ABCC8 -c.3286C>T 6* M 180 3.6 1.45 10.47 111 Y Y Y R269H De Novo GLUD1 -c.978G>A 7 M 76 4.2 1.8 43.51 95 N - - - - - 8 F 120 4.3 2.4 9.65 31 N - - - - - 9 F 2 2.3 1.6 5.34 47 N - - - - - 10 M 180 2.7 1.37 17.45 22 Y - - - - - 11 M 120 3.5 2.29 16.92 17 Y - - - - - 12* M 240 3.5 2.17 8.1 88 Y Y Y S445L De NovoGLUD1 -c.1506C>T 13* M 150 3.2 1.9 8.7 175 Y Y Y R269H Paternal GLUD1 -c.978G>A 14* F 1 4.2 2.01 9.18 44 Y N Y R1217K MaternalABCC8 -c.3650G>A 15* F 120 3.6 1.82 0.87 31 Y Y N R1493Q Paternal ABCC8 -C4487G>A 16* M 45 4.2 1.7 17.4 44 N Y N Q235E Paternal KCNJ11 -C703C>G 17 F 1 4.9 3.43 10.9 35 Y - - - - - 18 M 120 2.8 0.79 16.54 41 Y - - - - - 19 M 90 2.9 2.42 8.3 58 Y - - - - - 20* M 330 3.2 2.5 12.8 175 Not Used N Not Used R495Q Paternal ABCC8 -c.1484G>A 21* M 80 3.4 0.67 3.1 36 N Y N p.C1000* Paternal ABCC8 -c.3000C>A 22* F 1 5.28 1.04 22.94 46 N Y N D1505H De NovoABCC8 -c.4513G>C 23 F 240 3.25 2.24 4.69 26 Y - - - - - 24 M 240 3.5 1.9 12.96 31 Y - - - - - 25 F 1 3.6 1.06 30.8 54 Y - - - - - 26* F 2 4.5 1.5 8.8 38 N Y N Q474R De NovoABCC8 -c.1421A>G 27 F 30 3.5 1.03 10.37 27 Y - - - - - 28 M 120 5.45 1.36 11.48 48 N - - - - - 29 M 720 4.3 2.2 8.3 21 Y - - - - - 30* F 1 4.05 1.96 1.41 62 N Y N p.R598* De Novo ABCC8 -c.1792C>T * Patients with mutation results mutation in KCNJ11. Login to comment 77 ABCC8 p.Asp1505His ABCC8 p.Cys1000* The p.C1000*, D1505H, and Q235E mutations have never been described before. Login to comment 82 ABCC8 p.Ala640Val ABCC8 p.Gln1196* In agreement with this study, our analysis identified a patient who was carrying a compound heterozygous mutation (A640V, p.Q1196*) in ABCC8. Login to comment 86 ABCC8 p.Arg1217Lys In our study, we identified a patient with mild hypoglycemia that was controlled with diazoxide as a carrier for a dominantly inherited R1217K mutation in the ABCC8 gene. Login to comment 107 ABCC8 p.Arg495Gln ABCC8 p.Arg1493Gln ABCC8 p.Trp288* ABCC8 p.Cys1000* Five patients carried paternally inherited ABCC8 mutations including P629PfsX17, p.W288*, R495Q, R1493Q and p.C1000*. Login to comment 108 ABCC8 p.Arg1217Lys ABCC8 p.Ala640Val ABCC8 p.Gln1196* One patient carried a dominantly inherited R1217K mutation whereas another patient carried a mutation A640V jointly with the paternally inherited mutation p.Q1196*. Login to comment 109 ABCC8 p.Gln474Arg ABCC8 p.Asp1505His ABCC8 p.Arg598* In addition, 3 patients were found to carry de novo ABCC8 mutations, D1505H, Q474R and p.R598*. Login to comment 145 ABCC8 p.Gln474Arg ABCC8 p.Arg495Gln ABCC8 p.Arg1493Gln ABCC8 p.Arg1217Lys ABCC8 p.Asp1505His ABCC8 p.Arg598* ABCC8 p.Cys1000* A) Patient 5 showed a c.4487 G>A mutation (R1493Q); B) patient 20 showed a c.1484 G>A mutation (R495Q); C) patient 14 showed a c.3650G>A mutation (R1217K); D) patient 21 showed a c.3000C>A mutation (p.C1000*); E) patient 22 showed a c.4513G>C mutation (D1505H); F) patient 26 showed a c.1421A>G mutation (Q474R); G) patient 30 showed a c.1792C>T mutation (p.R598*). Login to comment