| 1 | ABCC8, HADH, HHF1, HHF2, HHF4, KCNJ11
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| Next-Generation Sequencing Reveals Deep Intronic Cryptic ABCC8 and HADH Splicing Founder Mutations Causing Hyperinsulinism by Pseudoexon Activation.
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| Flanagan SE, Xie W, Caswell R, Damhuis A, Vianey-Saban C, Akcay T, Darendeliler F, Bas F, Guven A, Siklar Z, Ocal G, Berberoglu M, Murphy N, O'Sullivan M, Green A, Clayton PE, Banerjee I, Clayton PT, Hussain K, Weedon MN, Ellard S.
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| Am J Hum Genet 92(1):131-6. doi: 10.1016/j.ajhg.2012.11.017. Epub 2012 Dec 27.
2013
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| 2 | HADH, HHF4
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| Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
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| Flanagan SE, Patch AM, Locke JM, Akcay T, Simsek E, Alaei M, Yekta Z, Desai M, Kapoor RR, Hussain K, Ellard S.
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| J Clin Endocrinol Metab 96(3):E498-502. doi: 10.1210/jc.2010-1906. Epub 2011 Jan 20.
2011
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| 3 | GLUD1, HADH, HHF4, HHF6
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| Two genetic forms of hyperinsulinemic hypoglycemia caused by dysregulation of glutamate dehydrogenase.
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| Stanley CA.
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| Neurochem Int 59(4):465-72. doi: 10.1016/j.neuint.2010.11.017. Epub 2010 Dec 2. Review.
2011
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| 4 | HADH, HHF5, HHF4
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| Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
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| Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njolstad PR, Jellum E, Sovik O.
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| Diabetes 53(1):221-7. 2004
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| 5 | HADH, HADHD, HHF4, HHF5
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| Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion.
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| Clayton PT, Eaton S, Aynsley-Green A, Edginton M, Hussain K, Krywawych S, Datta V, Malingre HE, Berger R, van den Berg IE.
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| J Clin Invest 108(3):457-65. 2001
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