The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism | Zendy

Irina Giurgea | Zendy; Christine Sempoux | Zendy; Christine BellannéChantelot | Zendy; Maria João Ribeiro | Zendy; Laurence Hubert | Zendy; Nathalie Boddaert | Zendy; JeanMarie Saudubray | Zendy; JeanJacques Robert | Zendy; Françis Brunelle | Zendy; Jacques Rahier | Zendy; Francis Jaubert | Zendy; Claire NihoulFeketé | Zendy; Pascale de Lonlay | Zendy

Open Access

The Knudson’s Two-Hit Model and Timing of Somatic Mutation May Account for the Phenotypic Diversity of Focal Congenital Hyperinsulinism

Author(s) -

Irina Giurgea,

Christine Sempoux,

Christine BellannéChantelot,

Maria João Ribeiro,

Laurence Hubert,

Nathalie Boddaert,

JeanMarie Saudubray,

JeanJacques Robert,

Françis Brunelle,

Jacques Rahier,

Francis Jaubert,

Claire NihoulFeketé,

Pascale de Lonlay

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2006-0397

Subject(s) - haploinsufficiency , congenital hyperinsulinism , germline mutation , germline , biology , lesion , somatic cell , medicine , mutation , pathology , hyperinsulinism , endocrinology , phenotype , genetics , insulin , insulin resistance , gene

Congenital hyperinsulinism (CHI) is associated with focal hyperplasia of endocrine tissue in 40-65% of patients. Focal CHI is sporadic and is caused by a germline, paternally inherited, mutation of the SUR1 (ABCC8) or KIR6.2 (KCNJ11) genes (encoding subunits of the pancreatic ATP-dependent potassium channel) together with somatic maternal haploinsufficiency for 11p15.5. Plurifocal or large forms of focal CHI are a cause of apparent failure of surgery, and their underlying mechanism has not been thoroughly investigated.

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