PMID- 23074679
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20121018
LR  - 20211021
IS  - 2090-6552 (Electronic)
IS  - 2090-6544 (Print)
IS  - 2090-6552 (Linking)
VI  - 2011
DP  - 2011
TI  - A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with 
      Phenotypic GCK Insufficiency.
PG  - 768610
LID - 10.1155/2011/768610 [doi]
LID - 768610
AB  - We report on a boy with diabetes mellitus and a phenotype indicating glucokinase 
      (GCK) insufficiency, but a normal GCK gene examination applying direct gene 
      sequencing. The boy was referred for diabetes mellitus at 7.5 years old. His 
      father, grandfather and great grandfather suffered type 2 DM. Several blood 
      glucose profiles showed (BG) of 6.5-10 mmol/L L. After three years on neutral 
      insulin Hagedorn (NPH) in a dose of 0.3 IU/kg/day haemoglobin A1c (HbA1c) was 
      6.8%. Treatment was changed to sulphonylurea 750 mg a day, and after 4 years 
      HbA1c was 7%. At that time a multiplex ligation-dependent amplification gene 
      dosage assay (MLPA) was done, revealing a whole GCK gene deletion. Medical 
      treatment was ceased, and after one year HbA1c was 6.8%. This case underscores 
      the importance of a MLPA examination if the phenotype of a patient is strongly 
      indicative of GCK insufficiency and no mutation is identified using direct 
      sequencing.
FAU - Birkebaek, N H
AU  - Birkebaek NH
AD  - Department of Pediatric, Aarhus University Hospital, Skejby, 8200 Aarhus C, 
      Denmark.
FAU - Sorensen, J S
AU  - Sorensen JS
FAU - Vikre-Jorgensen, J
AU  - Vikre-Jorgensen J
FAU - Jensen, P K A
AU  - Jensen PK
FAU - Pedersen, O
AU  - Pedersen O
FAU - Hansen, T
AU  - Hansen T
LA  - eng
PT  - Case Reports
DEP - 20111020
PL  - United States
TA  - Case Rep Genet
JT  - Case reports in genetics
JID - 101583302
PMC - PMC3447227
EDAT- 2011/01/01 00:00
MHDA- 2011/01/01 00:01
PMCR- 2011/10/20
CRDT- 2012/10/18 06:00
PHST- 2011/07/13 00:00 [received]
PHST- 2011/08/18 00:00 [accepted]
PHST- 2012/10/18 06:00 [entrez]
PHST- 2011/01/01 00:00 [pubmed]
PHST- 2011/01/01 00:01 [medline]
PHST- 2011/10/20 00:00 [pmc-release]
AID - 10.1155/2011/768610 [doi]
PST - ppublish
SO  - Case Rep Genet. 2011;2011:768610. doi: 10.1155/2011/768610. Epub 2011 Oct 20.