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GYS2  -  glycogen synthase 2 (liver)

Homo sapiens

 
 
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Disease relevance of GYS2

  • A 7 year-old boy presenting with growth retardation, fasting hypoglycemia and ketoacidosis was diagnosed as having both idiopathic growth hormone (GH) deficiency and hepatic glycogen synthase (GS) deficiency caused by a homozygous mutation in exon 5 of the liver glycogen synthase gene (GYS-2) [1].
 

High impact information on GYS2

  • To investigate whether mutations in the liver GS gene (GYS2) on chromosome 12p12.2 were involved in GSD-0, we determined the exon-intron structure of the GYS2 gene and examined nine affected children from five families for linkage of GSD-0 to the GYS2 gene [2].
  • Mutation screening of the 16 GYS2 exons was done by single-strand conformational polymorphism (SSCP) and direct sequencing [2].

References

  1. Effect of growth hormone treatment on hypoglycemia in a patient with both hepatic glycogen synthase and isolated growth hormone deficiencies. Blümel, P., Mullis, P.E. Journal of pediatric endocrinology & metabolism : JPEM. (2001) [Pubmed]
  2. Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. Orho, M., Bosshard, N.U., Buist, N.R., Gitzelmann, R., Aynsley-Green, A., Blümel, P., Gannon, M.C., Nuttall, F.Q., Groop, L.C. J. Clin. Invest. (1998) [Pubmed]
 
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