Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Edghill, EL; Gloyn, AL; Goriely, A; Harries, LW; Flanagan, SE; Rankin, J; Hattersley, AT; Ellard, S

Abstract:

CONTEXT: Activating mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the pancreatic beta-cell K(ATP) channel, result in permanent and transient neonatal diabetes. The majority of KCNJ11 mutations are spontaneous, but the parental origin of these mutations is not known. OBJECTIVE: Our objective was to determine the parental origin of de novo KCNJ11 mutations and investigate the possibility of mosaicism in transmitting parents. DESIGN: We identified 68 index cases with a KCNJ1...

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APA Style

Edghill, E. L., Gloyn, A. L., Goriely, A., Harries, L. W., Flanagan, S. E., Rankin, J., Hattersley, A. T., & Ellard, S. (2007). Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings. The Journal of Clinical Endocrinology and Metabolism, 92(5), 1773–1777.

MLA Style

Edghill, E. L., et al. “Origin of De Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings.” The Journal of Clinical Endocrinology and Metabolism, vol. 92, no. 5, The Journal of clinical endocrinology and metabolism, 2007, pp. 1773–77.

Chicago Style

Edghill, EL, AL Gloyn, A Goriely, LW Harries, SE Flanagan, J Rankin, AT Hattersley, and S Ellard. 2007. “Origin of De Novo KCNJ11 Mutations and Risk of Neonatal Diabetes for Subsequent Siblings.” The Journal of Clinical Endocrinology and Metabolism 92 (5): 1773–77.
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