ABCC8 p.Val84Ile
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PMID: 21214702
[PubMed]
Gonsorcikova L et al: "Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations."
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3
We present a unique case of a 19-year-old man with a positive family history of persistent mild hyperglycemia and a novel V84I mutation in ABCC8.
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ABCC8 p.Val84Ile 21214702:3:122
status: NEW7 After having excluded a causative mutation in five maturity-onset diabetes of the young genes (MODY1-4 and 6), we identified a novel ABCC8 V84I mutation, which segregated with autosomal dominant transmission of mild hyperglycemia within three generations.
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ABCC8 p.Val84Ile 21214702:7:139
status: NEW58 After having excluded a mutation within the GCK and HNFs genes or a change in gene dosage, we identified a novel G>A substitution in exon 2 of the ABCC8 gene leading to a substitution of valine (GTC) by isoleucine (ATC) at the first position of codon 84 (p.V84I mutation).
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ABCC8 p.Val84Ile 21214702:58:257
status: NEW60 The V84I mutation was not found in 300 control chromosomes of Czech healthy subjects.
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ABCC8 p.Val84Ile 21214702:60:4
status: NEW61 Seven of nine additional family members tested were found to carry the V84I mutation (Fig. 1; Table 1).
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ABCC8 p.Val84Ile 21214702:61:71
status: NEW62 Discussion We present a family with transmission of mild nonprogressive hyperglycemia in three generations because of a novel ABCC8 V84I mutation.
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ABCC8 p.Val84Ile 21214702:62:132
status: NEW63 The proband and five members of his family with mild hyperglycemia but no diabetic complications were found to carry the novel V84I mutation, which is located in ABCC8 exon 2 and leads to an aminoacid substitution in the transmembrane domain TMD0 of SUR1.
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ABCC8 p.Val84Ile 21214702:63:127
status: NEW67 We can therefore hypothesize that the V84I mutation may lead to slightly altered channel gating and thus impaired release of insulin granules.
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ABCC8 p.Val84Ile 21214702:67:38
status: NEW68 However, the V84I mutation that we report seems to induce a milder phenotype compared to other mutations in the TMD0 region described so far.
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ABCC8 p.Val84Ile 21214702:68:13
status: NEW69 The clinical phenotype of family members carrying the ABCC8 V84I mutation resembles GCK diabetes (MODY2) with an autosomal dominant mode of inheritance and persistent mild fasting hyperglycemia.
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ABCC8 p.Val84Ile 21214702:69:60
status: NEW