ABCMdb

ABCC8 p.Trp143*

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Publications

PMID: 26268944 [PubMed] Senniappan S et al: "Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia."

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106 TableÊf;1ߒ Clinical characteristics and genetic mutations of 23 Iranian patients with hyperinsulinaemic hypoglycaemia Patient number Gender (F = female, M = male) Gestation- term Birth weight (g) Age of onset of hypoglycaemia Epilepsy Neurode- velopmen- tal delay Consanguineous parents Treatment Genotype Mutation Maternal/ paternal genotype Follow up Diazoxide responsive Octreotide responsive Pancreatectomy ABCC8 1 F Yes 3,280 2 days No No No Yes Yes Heterozygous c.2041-21G>A (splicing) None/heterozygous Died at 3 months of ago 2 F Yes 3,750 1 day Yes Yes No Yes Homozygous p.R1494W (missense) Heterozygous/heterozygous Needed insulin 3 F Yes 4,200 1 day Yes No Yes Yes Homozygous p.W143X (nonsense) Heterozygous/heterozygous Needed diazoxide 4 F Yes 5,000 1 day No No Yes Yes Homozygous p.G1376R (missense) Heterozygous/heterozygous Needed diazoxide 5 M Yes 4,200 1 day No No Yes Yes Homozygous c.2697+5G>A (intron 22, novel splicing) Heterozygous/heterozygous On diazoxide 6 M Yes 4,500 1 day No No Yes Yes Homozygous c.2697+5G>A (intron 22, novel splicing) Heterozygous/heterozygous Resolved by 4 years of ago KCNJ11 7 M Yes 4,400 1 day No No Yes Yes Compound heterozy- gous p.P34OH (missense) and pF117del (novel in-frame) Heterozygous/heterozygous Died at 4 months of ago HADH 8 M Yes 2,860 3 months Yes No Yes Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 9 F Yes 3,000 1 year No No Yes Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous Stopped diazoxide/ no relapse 10 M Yes 2,900 1 day Yes Yes Yes Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide TableÊf;1ߒ continued Patient number Gender (F = female, M = male) Gestation- term Birth weight (g) Age of onset of hypoglycaemia Epilepsy Neurode- velopmen- tal delay Consanguineous parents Treatment Genotype Mutation Maternal/ paternal genotype Follow up Diazoxide responsive Octreotide responsive Pancreatectomy 11 F Yes 3,650 4 days No No No Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 12 M Yes 3,600 3 months Yes Yes Yes Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 13 M Yes 3,100 1.5 months Yes Yes No Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 14 M Yes 2,900 7.5 months No No Yes Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 15 F Yes 3,200 1 day Yes No No Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 16 M Yes 3,600 3 months Yes Yes No Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 17 M Yes 3,500 3 months Yes Yes No Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide 18 M Yes 3,500 3 months Yes No No Yes Homozygous delA617.c (frameshift) Heterozygous/heterozygous On diazoxide No mutation 19 M No 1,700 3 years No No Yes Yes Tapered diazoxide/ no relapse 20 M No 2,050 1 day Yes No No Yes On diazoxide 21 F Yes 2,800 9 months No No No Yes On diazoxide 22 F Yes 3,300 5 months Yes Yes Yes Yes On diazoxide F Yes 3,750 1 day No No No Yes On diazoxide In contrast to these observations, several other studies suggest a major role of KATP channel in the pathogenesis of patients with HH [19, 21, 23]. Login to comment