ABCMdb

ABCC8 p.Trp688Arg

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Publications

PMID: 21544516 [PubMed] Russo L et al: "Permanent diabetes during the first year of life: multiple gene screening in 54 patients."

No. Sentence Comment

41 The other patient (group 2) Table 1 Clinical and genetic features of patients with diabetes onset within the first year of life studied in the present investigation Patient T1D autoantibodies tested Age at onset (days) Gene variant Other features SU treatment Group 1 nd-VI/1 ICA, GADA, IA-2A 1 KCNJ11/V59A DEND Yes nd-BR/1 None 2 - Diarrhoea nd-RM/4 IAA, GADA, IA-2A 2 KCNJ11/R201S Yes nd-MI/3 IAA, GADA, IA-2A, ZnT8A 2 KCNJ11/R201C Yes nd-PD/2 None 3 ABCC8/L213P DEND Yes nd-FI/1 None 15 ABCC8/V324M; ABCC8/W688R Yes nd-CT/2 None 27 - nd-MI/2 ICA, GADA, IA-2A 38 KCNJ11/K170R Yes nd-LE/2 ICA, IAA, GADA, IA-2A 39 - nd-PR/2 None 40 ABCC8/L213P iDEND Yes nd-NA/1 None 40 KCNJ11/R201C Yes + insulin nd-CT/1 none 60 KCNJ11/V59M iDEND Yes nd-NA/2 ICA, GADA, IA-2A 71 ABCC8/A355T Anaemia Yes + insulin nd-MO/3 ICA, IAA, GADA 73 KCNJ11/H46Y Yes nd-RM/4 IAA, GADA, IA-2A 80 - nd-TO/3 GADA, IA-2A 82 - nd-TS/2 None 120 KCNJ11/V59M iDEND Yes nd-RM/6 None 120 KCNJ11/R195Ha nd-RM/5 IAA, GADA, IA-2A 135 KCNJ11/E322K Yes nd-PI/1 ICA 141 - nd-BG/1 GADA 180 ABCC8/S1054Na nd-CES/3 None 190 - Group 2 mdi-RM/3 None 220 KCNJ11/V59M iDEND Yes mdi/NA-B/1 ICA 251 - mdi-PA/1 ICA, IAA, GADA, IA-2A 270 - mdi-RM-OBG/1 IAA, GADA 289 - Muscle hypotrophy mdi-CES/1 ICA, IAA 300 - mdi-RM-OBG/3 IAA, GADA, IA-2A 330 - mdi-RM-OBG/2 IAA, GADA, IA-2A 330 - mdi-NA/2 GADA, IA-2A 354 - SU treatment denotes complete withdrawal of insulin therapy unless specified. Login to comment
74 Of our patients, one proband was a compound heterozygote for the ABCC8/V324M mutation, previously described in patients with the transient form of the disease (TNDM) [36], who usually need insulin therapy for less than 1 year [4], and for the novel W688R (c.2062T>G) mutation (nd-FI/1). Login to comment
76 Because both of the patient`s parents were deceased, we analysed the grandparents` DNA and confirmed the ABCC8/V324M mutation in the maternal grandfather and the ABCC8/ W688R mutation in the paternal grandmother (Fig. 1). Login to comment
77 After identifying the mutations, an OGTT was done in both patients; the carrier for V324M was diagnosed with diabetes (2 h plasma glucose 14 mmol/l) and the carrier for W688R presented with impaired glucose tolerance (2 h plasma glucose 8.4 mmol/l). Login to comment
90 V324M T2D 74 years 74 years - W688R IGT 70 years 70 years - V324M/W688R PNDM/MDI 15 days 17 years INS Family nd-FI/1 I. II. III. Login to comment
92 For the two grandparents of proband nd-FI/1, OGTT tests were performed at 70 (W688R) and 74 (V324M) years of age. Login to comment
97 In Group 1, novel mutations in KCNJ11/R201S, ABCC8/L213P and ABCC8/ W688R were identified. Login to comment
100 In our case, however, we favour the hypothesis that both ABCC8/V324M and ABCC8/W688R are mildly activating, based on the fact that W688R is associated with impaired glucose tolerance in the paternal grandmother. Login to comment