Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

Diabetologia

Volumn 50, Issue 11, 2007, Pages 2313-2317

  Ellard, S ^a,b   Thomas, K ^b   Edghill, E L ^a   Owens, M ^b   Ambye, L ^c   Cropper, J ^d   Little, J ^e   Strachan, M ^e   Stride, A ^a   Ersoy, B ^f   Eiberg, H ^g   Pedersen, O ^c   Shepherd, M H ^a   Hansen, T ^c   Harries, L W ^a   Hattersley, A T ^a  

^a PENINSULA MEDICAL SCHOOL   (United Kingdom)

^b ROYAL DEVON AND EXETER NHS FOUNDATION TRUST   (United Kingdom)

^c STENO DIABETES CENTER   (Denmark)

^d LEEDS GENERAL INFIRMARY   (United Kingdom)

^e WESTERN GENERAL HOSPITAL   (United Kingdom)

^f CELAL BAYAR UNIVERSITY   (Turkey)

^g UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Deletion mutation; GCK; HNF 1 ; HNF 4 ; HNF1A; HNF1B; HNF4A; Maturity onset diabetes of the young; MODY; TCF1

Indexed keywords

GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; TRANSCRIPTION FACTOR 7;

ADOLESCENT; ADULT; ARTICLE; CHILD; EXON; FAMILY RELATION; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; JUVENILE DIABETES MELLITUS; OLIGONUCLEOTIDE PROBE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD, PRESCHOOL; DIABETES MELLITUS, TYPE 2; FEMALE; GENE DELETION; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 1-ALPHA; HUMANS; MALE; PEDIGREE; PHENOTYPE;

EID: 34848817769     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00125-007-0798-6     Document Type: Article

References (9)

1. Gloyn AL, Ellard S (2006) Defining the genetic aetiology of monogenic diabetes can improve treatment. Expert Opin Pharmacother 7:1759-1767
2. Stride A, Hattersley AT (2002) Different genes, different diabetes: lessons from maturity-onset diabetes of the young. Ann Med 34:207-216
3. Pearson ER, Pruhova S, Tack CJ et al (2005) Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4 alpha mutations in a large European collection. Diabetologia 48:878-885
4. Hattersley AT, Pearson ER (2006) Minireview: pharmacogenetics and beyond: the interaction of therapeutic response, beta-cell physiology, and genetics in diabetes. Endocrinology 147:2657-2663
5. Bellanne-Chantelot C, Clauin S, Chauveau D et al (2005) Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54:3126-3132
6. Edghill E, Owens M, Harries LW, Bingham C, Ellard S, Hattersley AT (2006) Hepatocyte nuclear factor-1beta gene deletions are common in subjects with unexplained renal disease and diabetes. Diabet Med 23:41
7. Shepherd M, Hattersley AT (2004) 'I don't feel like a diabetic any more': the impact of stopping insulin in patients with maturity onset diabetes of the young following genetic testing. Clin Med 4:144-147
8. Ulinski T, Lescure S, Beaufils S et al (2006) Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17:497-503
9. Sharp AJ, Hansen S, Selzer RR et al (2006) Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet 38:1038-1042