PMID: 25048417

Artuso R, Provenzano A, Mazzinghi B, Giunti L, Palazzo V, Andreucci E, Blasetti A, Chiuri RM, Gianiorio FE, Mandich P, Monami M, Mannucci E, Giglio S
Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes.
Pharmacogenomics J. 2015 Feb;15(1):49-54. doi: 10.1038/tpj.2014.37. Epub 2014 Jul 22., [PubMed]
Sentences
No. Mutations Sentence Comment
105 ABCC8 p.Ser574Gly
X
ABCC8 p.Ser574Gly 25048417:105:237
status: NEW
view ABCC8 p.Ser574Gly details
ABCC8 p.Ser574Gly
X
ABCC8 p.Ser574Gly 25048417:105:568
status: NEW
view ABCC8 p.Ser574Gly details
ABCC8 p.Ser574Gly
X
ABCC8 p.Ser574Gly 25048417:105:731
status: NEW
view ABCC8 p.Ser574Gly details
ABCC8 p.Ser1500Arg
X
ABCC8 p.Ser1500Arg 25048417:105:1033
status: NEW
view ABCC8 p.Ser1500Arg details
 Variants identified in patients Patient Total variants Rs (SNPs) Rs OMIM associated Parents Rare variants Mother Father Case #1 578 136 rs5219 (KCNJ11 c.67G4A p.Glu23Lys) rs1169288 (HNF1A c.79A4C p.Ile27Leu) rs1169305 (HNF1A c.1720A4G p.Ser574Gly) rs1260326 (GCKR c.1403C4T p.Pro446Leu) rs5219 rs1169288 rs1169305 rs1260326 rs5219 rs1169288 rs1169305 rs1260326 RFX6 (c.1678G4A p.Asp560Asn) WFS1 (c.2054G4A p.Arg685His) both inherited from the mother Case #2 1032 182 rs5219 (KCNJ11 c.67G4A p.Glu23Lys) rs1169288 (HNF1A c.79A4C p.Ile27Leu) rs1169305 (HNF1A c.1720A4G p.Ser574Gly) NA NA RFX6 (c.1865C4A p.Thr622Lys) Case #3 614 135 rs5219 (KCNJ11 c.67G4A p.Glu23Lys) rs1169288 (HNF1A c.79A4C p.Ile27Leu) rs1169305 (HNF1A c.1720A4G p.Ser574Gly) rs1260326 (GCKR c.1403C4T p.Pro446Leu) rs3856806 (PPARG c.1347C4 T p.His449His) rs100010131 (WFS1 IVS4-9G4A) rs5219 rs1169288 rs1169305 rs1260326 rs100010131 rs5219 rs1169288 rs1169305 rs1260326 rs3856806 rs100010131 RFX6 (c.1558A4T p.Ser520Thr) inherited from the mother ABCC8 (c.4500C4A p.Ser1500Arg) inherited from the father Abbreviations: NA, not available; SNP, single-nucleotide polymorphisms. Login to comment