ABCC8 p.His105Pro
| Predicted by SNAP2: | A: D (59%), C: D (63%), D: D (71%), E: D (63%), F: D (53%), G: D (59%), I: N (61%), K: D (66%), L: N (78%), M: N (57%), N: N (61%), P: D (75%), Q: D (53%), R: D (59%), S: N (57%), T: N (61%), V: N (53%), W: D (63%), Y: N (61%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] A compound heterozygous mutation of ABCC8 gene cau... Gene. 2015 Nov 10;572(2):222-6. doi: 10.1016/j.gene.2015.07.012. Epub 2015 Jul 8. Zhang W, Liu L, Wen Z, Cheng J, Li C, Li X, Niu H, Wang F, Sheng H, Liu H
A compound heterozygous mutation of ABCC8 gene causing a diazoxide-unresponsive congenital hyperinsulinism with an atypical form: Not a focal lesion in the pancreas reported by (1)(8)F-DOPA-PET/CT scan.
Gene. 2015 Nov 10;572(2):222-6. doi: 10.1016/j.gene.2015.07.012. Epub 2015 Jul 8., [PMID:26162674]
Abstract [show]
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic beta-cells leading to severe hypoglycemia in infancy. 18-fluoro-l-3,4-dihydroxyphenylalanine positron emission tomography ((18)FDOPAPET)/CT is a useful tool in distinguishing between focal and diffuse disease preoperatively. But recent studies have suggested that the scanning may not be accurate as initially estimated. In this study we characterize a case of CHI with a compound heterozygous mutation of ABCC8 gene. The results of clinical investigation, gene mutation analysis, (18)FDOPAPET/CT scan, and pathological examination showed some new characteristics that have never been reported. The patient was unresponsive to medical therapy with diazoxide and received pancreatectomy twice. Genetic analysis identified a compound heterozygous mutation in ABCC8 genes. Imaging with (18)FDOPAPET/CT indicated a focal lesion in the head of the pancreas. The pathological diagnosis was an atypical form of CHI. The patient presented with a phenotype of atypical CHI unresponsive to diazoxide. It is considered that a relationship existed between the compound heterozygous mutation and the atypical form. (18)FDOPAPET/CT is a useful tool in distinguishing between focal and diffuse forms preoperatively but the accuracy is not 100%. The scan result is best combined with genetic analysis and intra-operative biopsy to confirm the histological subtypes. The combination will provide the optimal strategy for the surgical treatment of patients with CHI.
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No. Sentence Comment
112 One was a novel missense mutation c.314A N C (p.His105Pro) in exon 3 inherited from his father.
X
ABCC8 p.His105Pro 26162674:112:48
status: NEW113 The A N C mutation at nucleotide 314 resulted in the substitution of histidine for proline at codon 105.
X
ABCC8 p.His105Pro 26162674:113:69
status: NEW128 One was a novel missense mutation p.His105Pro in exon 3 inherited from his father.
X
ABCC8 p.His105Pro 26162674:128:36
status: NEW