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Pitfalls in the diagnosis of frameshift mutations in the glucokinase (GCK) gene and the contribution of an additional cloning sequencing tool

2015; Elsevier BV; Volume: 108; Issue: 1 Linguagem: Inglês

10.1016/j.diabres.2015.01.033

1872-8227

Letícia Schwerz Weinert, Fernando M. A. Giuffrida, Sandra Pinho Silveiro, Caroline Bulcão, Ilda S. Kunii, Magnus R. Dias‐da‐Silva, André F. Reis,

Erythrocyte Function and Pathophysiology

Maturity-onset diabetes of the young (MODY) is the most common form of monogenic diabetes. Affected individuals from all continents have been described. Mutations in glucokinase (GCK) and hepatocyte nuclear factor homeobox-1A (HNF1A) genes are the most common causes of MODY. We have recently performed further analyses of some of the mutations described by our group, which adds information to our publication entitled "Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY", by Weinert et al., recently published in Diabetes Research and Clinical Practice [ [1] Weinert L.S. Silveiro S.P. Giuffrida F.M.A. Cunha V.T. Bulcão C. Calliari L.E. et al. Three unreported glucokinase (GCK) missense mutations detected in the screening of thirty-two Brazilian kindreds for GCK and HNF1A-MODY. Diabetes Res Clin Pract. 2014; 106: e44-e48 Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar ]. In fact, the GCK 2-bp (CA) nucleotide deletion (c.423delCA) incurring in frameshift with a stop codon at 20 amino acids downstream in exon 4 (p.His141GlnfsX20) is a newly reported mutation, and not the one previously attributed to the Spanish group of Estalella et al. [ [2] Estalella I. Rica I. Perez de Nanclares G. Bilbao J.R. Vazquez J.A. San Pedro J.I. et al. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol. 2007; 67: 538-546 PubMed Google Scholar ] as stated in our paper. Although the frameshift mutation has arisen in the same codon His141, they described a 1-bp C deletion (c.423delC), resulting in p.His141GlnfsX14 [ [2] Estalella I. Rica I. Perez de Nanclares G. Bilbao J.R. Vazquez J.A. San Pedro J.I. et al. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. Clin Endocrinol. 2007; 67: 538-546 PubMed Google Scholar ]. It is likely that GCK protein truncations are equally damaging in both cases.