ABCMdb

ABCC8 p.Arg168Cys

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Publications

PMID: 22796691 [PubMed] Jain V et al: "Permanent neonatal diabetes caused by a novel mutation."

No. Sentence Comment

46 Molecular genetic analysis: Sequencing analysis showed that the infant was heterozygous for two missense mutations, R168C and G1256S, in exons 4 and 31 of the ABCC8 gene. Login to comment
47 The C>T mutation at nucleotide 502 (c.502C>T) results in substitution of cysteine for arginine at codon 168 (p.Arg168Cys) and has been reported previously in a patient with CHI [5].The G>Amutation at nucleotide 3766 (c.3766G>A) results in the substitution of serine for glycine at codon 1256 (p.Gly1256Ser), and has been identified in another patient with PNDM (Flanagan and Ellard, unpublished data). Login to comment
48 Testing of parents showed that the father was heterozygous for the missense mutation G1256S while the mother was heterozygous for the missense mutation R168C, implying that father was a carrier of NDM while mother was a carrier of CHI. Login to comment

PMID: 24686051 [PubMed] Demirbilek H et al: "Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations."

No. Sentence Comment

67 The remaining six ABCC8 mutations, p.R168C, p.N188S, p.L533P, p.W232G, p.R842Q and p.F591L were each identified in a single patient. Login to comment
85 Gene Current age (year) Exon/intron DNA description Protein description Consequence Transmission Treatment Follow-up Developmental delay Comments Diazoxide responsive Octreotide responsive Pancreatectomy (histology) ABCC8 1 3.9 Exon 28 c.3554COA p.Ala1185Glu Missense Homozygous K C K Octreotide CCC Novel mutation 2 0.7 Exon 28 c.3554COA p.Ala1185Glu Missense Homozygous K C K Octreotide Novel mutation 3 9.1 Exon 28 c.3554COA p.Ala1185Glu Missense Homozygous K K K Irregular CCCC Novel mutation 4 0.7 Exon 28 c.3554COA p.Ala1185Glu Missense Homozygous K C K Octreotide C Novel mutation 5 0.2 Exon 28 c.3554COA p.Ala1185Glu Missense Homozygous K C K Octreotide Novel mutation 6 0.7 Exon 28 c.3512delT p.Leu1171fs Frameshift Homozygous K K C (diffuse) Remission 7 0.7 Exon 28 c.3512delT p.Leu1171fs Frameshift Homozygous K C C (diffuse) Octreotide 8 Died Exon 28 c.3512del p.Leu1171fs Frameshift Heterozygous paternal K K C (diffuse) Died 9 5.8 Exon 28 c.3512delT p.Leu1171fs Frameshift Homozygous K C K Octreotide CCC Ectodermal dysplasia 10 9.6 Exon 28 c.3512delT p.Leu1171fs Frameshift Homozygous K C K Octreotide CCC 11 0.7 Exon 4 c.502COT c.563AOG p.Arg168Cys/ p.Asn188Ser Missense Compound heterozygous K C C (diffuse) Octreotide K 12 Died Exon 10 c.1598TOC p.Leu533Pro Missense Homozygous K C K Died Novel mutation 13 10.6 Exon 5/ exon 21 c.694TOG/ c.2525GOA p.Trp232Gly/ p.Arg842Gln Missense/ Missense Compound heterozygous K C K Octreotide CC 14 5.5 Exon 12 c.1771TOC p.Phe591Leu Missense Heterozygous C K Diazoxide K KCNJ11 15 2.4 Exon 1 c.101GOA/ c.376GOA p.Arg34His/ p.Glu126Lys Missense/ Missense Compound heterozygous K C K Octreotide K 16 3.3 Exon 1 c.272GOA p.Trp91X Nonsense Homozygous K C C (diffuse) Octreotide CC 17 3.2 Exon 1 c.376GOA p.Glu126Lys Missense Homozygous K C C (diffuse) Octreotide CC HADH 18 4.4 Exon 6 c.706COT p.Arg236X Nonsense Homozygous C Diazoxide C Genotype-phenotype correlation " Comparison between KATP mutation-positive and KATP mutation-negative groups highlighted a statistically significant increased birth weight and younger age of presentation in KATP mutation-positive group as compared with KATP mutation-negative patients (Table 3). Login to comment