A novel glucokinase deletion (p.Lys32del) and five previously described mutations co-segregate with the phenotype of mild familial hyperglycaemia (MODY2) in Brazilian families

作者：Giuffrida Fernando M A; Calliari Luis Eduardo; Della Manna Thais; Ferreira Joao Guimaraes; Saddi Rosa Pedro; Kunii Ilda S; Furuzawa Gilberto K; Dias da Silva Magnus R; Reis Andre F^*

来源：Diabetes Research and Clinical Practice, 2013, 100(2): E42-E45.

DOI：10.1016/j.diabres.2013.01.029

• MODY
• Glucokinase
• Monogenic diabetes

Six Brazilian families with mild familial hyperglycaemia have been screened for glucokinase (GCK) mutations. All had mutations that co-segregated with the phenotype. One of the mutations, the deletion 96_98delAAG (p.Lys32del), had not been previously described, reinforcing the worldwide prevalence of GCK MODY and widespread existence of undetected new mutations.

• 出版日期2013-5