ABCMdb

ABCC8 p.His1023Arg

None has been submitted yet.

Publications

PMID: 22306677 [PubMed] Mak CM et al: "Personalized medicine switching from insulin to sulfonylurea in permanent neonatal diabetes mellitus dictated by a novel activating ABCC8 mutation."

No. Sentence Comment

8 Results: A novel homozygous ABCC8 NM_000352.3: c.3068A>G; NP_000343.2: p.H1023R mutation was detected. Login to comment
68 RESULTS AND DISCUSSIONS We characterized a novel homozygous mutation ABCC8 NM_000352.3: c.3068 A>G; NP_000343.2: p.H1023R in this Chinese patient with permanent NDM (Fig. Login to comment
71 The parents were obligatory heterozygous carrier and healthy. The maternal grandparents who were in their 70s were also healthy. The treatment outcome by sulfonylurea was satisfactory in our patient harboring homozygous p.H1023R. Login to comment
90 A novel homozygous mutation in ABCC8 NM_ 000352.3: c.3068A>G; NP_000343.2: p.H1023R was identified in our Chinese patient with permanent NDM. Login to comment
100 Conceivably, p.H1023R detected in our patient likely explains her permanent condition of NDM. Interestingly, heterozygous carriers of p.H1023R (the patient`s parents and either one of her maternal grandparents) did not have any form of diabetes mellitus documented so far. Login to comment
101 We postulate that the homozygous p.H1023R contributes for a synergistic effect, resulting in a more severe phenotype of permanent NDM instead of the transient form. Login to comment
108 Recommendation regarding the potential risk of late-onset diabetes mellitus was also given to the parents being heterozygous for p.H1023R during the posttest genetic counseling. Login to comment
113 A novel homozygous mutation ABCC8 NM_000352.3: c.3068A>G; NP_000343.2: p.H1023R was identified in our Chinese patient with permanent NDM (in the sense direction). Login to comment